Pascale de Lonlay

Summary

Country: France

Publications

  1. ncbi Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
    Pascale de Lonlay
    fédération de pédiatrie, Hopital Necker Enfants Malades, Paris, France
    Eur J Pediatr 161:37-48. 2002
  2. ncbi [Hematologic manifestations of inborn errors of metabolism]
    P de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Pariscedex 15, France
    Arch Pediatr 9:822-35. 2002
  3. ncbi Facial appearance in persistent hyperinsulinemic hypoglycemia
    Pascale de Lonlay
    Departement de Pediatrie, INSERM U383, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 111:130-3. 2002
  4. ncbi Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2
    Nadia Bahi-Buisson
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, Paris, France
    J Child Neurol 22:1147-50. 2007
  5. doi Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
    Christine Barnerias
    Neuropaediatric Unit, Necker Hospital, AP HP, Paris, France
    Dev Med Child Neurol 52:e1-9. 2010
  6. ncbi Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
    Magalie Barth
    Centre de Référence des Maladies Métaboliques, Hopital Necker Enfants Malades, Paris, France
    J Inherit Metab Dis 33:S443-53. 2010
  7. pmc Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion
    M Mar González-Barroso
    Université Paris Descartes Site Necker enfants Malades, CNRS UPR 9078 BIOTRAM, Paris, France
    PLoS ONE 3:e3850. 2008
  8. pmc CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Universite Rene Descartes Paris V, 149 rue de Sevres, 75015 Paris, France
    Am J Hum Genet 82:623-30. 2008
  9. ncbi Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
  10. ncbi Coexistence in the same family of both focal and diffuse forms of hyperinsulinism
    Vassili Valayannopoulos
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
    Diabetes Care 30:1590-2. 2007

Detail Information

Publications71

  1. ncbi Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
    Pascale de Lonlay
    fédération de pédiatrie, Hopital Necker Enfants Malades, Paris, France
    Eur J Pediatr 161:37-48. 2002
    ..Eight of nine patients with childhood onset hyperinsulinism were treated surgically and histological examination confirmed an adenoma in each case...
  2. ncbi [Hematologic manifestations of inborn errors of metabolism]
    P de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Pariscedex 15, France
    Arch Pediatr 9:822-35. 2002
    ..Uremic hemolytic syndrome and hemophagocytic lymphohistiocytosis respectively orientate to B12 anomalies, lysinuric protein intolerance, lysosomal storage diseases and organic aciduria...
  3. ncbi Facial appearance in persistent hyperinsulinemic hypoglycemia
    Pascale de Lonlay
    Departement de Pediatrie, INSERM U383, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 111:130-3. 2002
    ..However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients...
  4. ncbi Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2
    Nadia Bahi-Buisson
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, Paris, France
    J Child Neurol 22:1147-50. 2007
    ..However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed...
  5. doi Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
    Christine Barnerias
    Neuropaediatric Unit, Necker Hospital, AP HP, Paris, France
    Dev Med Child Neurol 52:e1-9. 2010
    ..To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency...
  6. ncbi Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
    Magalie Barth
    Centre de Référence des Maladies Métaboliques, Hopital Necker Enfants Malades, Paris, France
    J Inherit Metab Dis 33:S443-53. 2010
    ..They might all interact with H2S toxicity. Prolonged dietary interventions involving the restriction for branched aminoacids, fatty acids and methionine could be discussed as auxiliary therapeutical strategies in EE...
  7. pmc Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion
    M Mar González-Barroso
    Université Paris Descartes Site Necker enfants Malades, CNRS UPR 9078 BIOTRAM, Paris, France
    PLoS ONE 3:e3850. 2008
    ..Our results show for the first time a direct association between UCP2 amino acid alteration and human disease and highlight a role for mitochondria in hormone secretion...
  8. pmc CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Universite Rene Descartes Paris V, 149 rue de Sevres, 75015 Paris, France
    Am J Hum Genet 82:623-30. 2008
    ..All the missense mutations resulted in a respiratory phenotype with no or decreased growth on glycerol medium and a severe reduction in ubiquinone synthesis, demonstrating that these mutations alter the protein function...
  9. ncbi Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
    ..Preoperative differential diagnosis was based on pancreatic venous sampling, a technically demanding technique...
  10. ncbi Coexistence in the same family of both focal and diffuse forms of hyperinsulinism
    Vassili Valayannopoulos
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
    Diabetes Care 30:1590-2. 2007
  11. doi Fatal rhabdomyolysis in 2 children with LPIN1 mutations
    Jean Bergounioux
    Pediatric Intensive Care Unit, Assistance Publique des Hopitaux de Paris, Hospital Necker Enfants Malades, Paris, France
    J Pediatr 160:1052-4. 2012
    ..Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit...
  12. ncbi Neurological aspects of hyperinsulinism-hyperammonaemia syndrome
    Nadia Bahi-Buisson
    Department of Paediatric Neurology and Metabolic Diseases, Necker Children s Hospital, Paris V University, Paris, France
    Dev Med Child Neurol 50:945-9. 2008
    ..Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy...
  13. ncbi Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
    Yves de Keyzer
    Metabolic Unit and Paediatric Department, Hopital Necker Enfants Malades, INSERM U781, University Paris Descartes, Paris, France
    Pediatr Res 66:91-5. 2009
    ..Our results bring further support for a role of secondary respiratory deficiency in the development of late multiorgan complications of these diseases...
  14. ncbi Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy
    Irina Giurgea
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, 75015 Paris, France
    Pediatrics 116:e145-8. 2005
    ..One percent (2 of 250) of all cases of hyperinsulinemic hypoglycemia in our unit have been identified as Munchausen syndrome by proxy. Atypical disease history should raise the question of factitious hypoglycemia...
  15. pmc Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism
    Jacques Beltrand
    Pediatric Endocrinology and Diabetes, Hopital Necker Enfants Malades, Université Paris Descartes Sorbonne Paris Cité, Paris, France
    Diabetes Care 35:198-203. 2012
    ..To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy...
  16. doi LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
    Caroline Michot
    Paris Descartes University, INSERM U781 and Ref Center of Metabolic Diseases, Necker Hospital, Paris, France
    Hum Mutat 31:E1564-73. 2010
    ..The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy...
  17. ncbi Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase
    Nadia Bahi-Buisson
    Service de Neurologie Pediatrique et Maladies Metaboliques, Departement de Pediatrie, Hopital Necker Enfants Malades, AP HP, Universite Paris Descartes, Paris, France
    Seizure 17:658-64. 2008
    ..A direct effect of the GDH mutation, perhaps in combination with recurrent hypoglycemia and chronic hyperammonemia could provide a pathophysiological explanation for the epilepsy observed in this syndrome and these are discussed...
  18. pmc Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
    Yohan Soreze
    Reference Center of Inherited Metabolic Diseases, Imagine Institute, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France
    Orphanet J Rare Dis 8:192. 2013
    ....
  19. ncbi [Hyperinsulinism in children: new concepts - the role of imaging]
    Francis Brunelle
    Radiologie Pédiatrique, Hopital Necker Enfants Malades, Paris
    Bull Acad Natl Med 192:59-70; discussion 71-2. 2008
    ..Biochemical and genetic studies show that focal and diffuse forms are due to various mutations of chromosome 11...
  20. doi Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
    Coralie Haudry
    Assistance Publique Hopitaux de Paris, Services de Génétique, de Cytogénétique et de Maladies Métaboliques, Hopital Necker Enfants Malades, 149, rue de Sèvres 75743 PARIS cedex 15, France
    Mol Genet Metab 107:700-4. 2012
    ..The identification of UPD2 will impact genetic counseling for the proband's parents. Because the recurrence risk for UPD2 is very low, the risk for disease in further offspring for this couple is negligible...
  21. doi Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia
    Svetlana Gataullina
    Neuropediatrics Department, Necker Enfants Malades Hospital, Paris, France
    Dev Med Child Neurol 54:1012-7. 2012
    ..To determine risk factors for neurological sequelae following hypoglycemia...
  22. pmc Congenital hyperinsulinism: current trends in diagnosis and therapy
    Jean Baptiste Arnoux
    Centre de Référence des Maladies Héréditaires du Métabolisme de l Enfant et l Adulte, AP HP Hôpital Necker Enfants Malades, Universite Paris Descartes, Paris, France
    Orphanet J Rare Dis 6:63. 2011
    ..By contrast, the long-term outcome of diffuse HI after subtotal pancreatectomy is characterized by a high risk of diabetes, but the time of its onset is hardly predictable...
  23. ncbi Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
    Alice Bourdon
    Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Nat Genet 39:776-80. 2007
    ..Accordingly, severe mtDNA depletion was found in various tissues of the Rrm2b-/- mouse. The mtDNA depletion triggered by p53R2 alterations in both human and mouse implies that p53R2 has a crucial role in dNTP supply for mtDNA synthesis...
  24. doi Congenital hyperinsulinism
    Jean Baptiste Arnoux
    Hospital Necker Enfants Malades, Paris, France
    Early Hum Dev 86:287-94. 2010
    ..The main points sum up the management of HI: i) prevention of brain damages by normalizing glycemia and ii) screening for focal HI as they may be definitively cured after a limited pancreatectomy...
  25. ncbi Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
    Emmanuelle Sarzi
    INSERM U781, Hopital Necker Enfants Malades, Paris, France
    J Pediatr 150:531-4, 534.e1-6. 2007
    ..To determine the actual incidence of mitochondrial DNA (mtDNA) depletion syndrome in multiple respiratory chain deficiency...
  26. ncbi Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
    Christine Barnerias
    Department of Paediatrics, Hopital Necker Enfants Malades, Paris, France
    Dev Med Child Neurol 48:227-30. 2006
    ..We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients...
  27. doi Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
    Caroline Michot
    Paris Descartes University, INSERM U781 and Reference Center of Metabolic Diseases, Necker Hospital, Paris, France
    J Inherit Metab Dis 35:1119-28. 2012
    ....
  28. doi Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred
    Svetlana Gataullina
    Neuropediatrics Department, Necker Enfants Malades Hospital, AP HP, Paris, France
    Dev Med Child Neurol 55:162-6. 2013
    ....
  29. doi Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
    Sophie Monnot
    INSERM unit U781, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 30:734-40. 2009
    ..Finally, although most PC mutations are suggested to interfere with biotin metabolism, none of the PC-deficient patients was biotin-responsive...
  30. ncbi What's new in metabolic and genetic hypoglycaemias: diagnosis and management
    Vassili Valayannopoulos
    Metabolic Department and Reference Centre for Metabolic Diseases, Necker Enfants Malades Hospital, 149, rue des Sèvres, 75015 Paris, France
    Eur J Pediatr 167:257-65. 2008
    ..New diagnostic tests such as the 18-fluoro-Dopa PET-scan have also been recently developed...
  31. ncbi Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients
    Angels Garcia-Cazorla
    Metabolic Diseases Unit, Department of Pediatrics and Biochemistry, Centre Hospitalier Universitaire Necker Enfants Malades, Universite Rene Descartes, Paris, France
    J Pediatr 149:401-405. 2006
    ..We conclude that liver biopsy should be considered not only in patients with hepatic involvement, but also in patients with predominant neurologic disorders if there is a suspicion of a mitochondrial respiratory chain defect...
  32. pmc Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
    Mathilde Nizon
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker Enfants Malades, APHP, Universite Paris Descartes, Institut Imagine, Paris, France
    Orphanet J Rare Dis 8:148. 2013
    ....
  33. ncbi Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency
    Mathilde Nizon
    Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France
    Mitochondrion 15:59-64. 2014
    ..Two mutations in the NFU1 gene confirmed the diagnosis. The p.Gly208Cys mutation has previously been reported suggesting a founder effect in Europe. ..
  34. pmc Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts
    Caroline Michot
    INSERM U781, Imagine Institut des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker, AP HP, Paris, France
    Biochim Biophys Acta 1832:2103-14. 2013
    ..Our data suggest that the pathogenic mechanism of rhabdomyolysis in lipin-1-deficient patients combines the predisposing constitutive impairment of lipid metabolism and its exacerbation by pro-inflammatory cytokines. ..
  35. doi The surgical management of atypical forms of congenital hyperinsulinism
    Carmen Capito
    Department of Pediatric Surgery, AP HP Hôpital Necker Enfants Malades, Universite Paris Descartes, Paris, France
    Semin Pediatr Surg 20:54-5. 2011
    ..In case of hyperinsulinism caused by a mosaic, our experience suggests the benefit of a limited resection from the tail to the body of the pancreas...
  36. doi Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure
    Vanessa Vedrenne
    Department of Genetics, Hopital Necker Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sevres, 75015 Paris, France
    J Hepatol 56:294-7. 2012
    ..The aim of our study was to identify the disease causing gene in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle...
  37. doi Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome
    Anaïs Brassier
    Reference Center of Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Universite Paris Descartes, France
    Mol Genet Metab 109:28-32. 2013
    ..G229C mutation screening as a valuable test in the Arab patients because of its high frequency. It also highlights the usefulness of genome-wide linkage analysis for decisive diagnosis advance in inherited metabolic disorders...
  38. ncbi Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes
    Lucie Hertz-Pannier
    Department of Paediatric Radiology, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Pediatr Radiol 36:108-14. 2006
    ..Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates...
  39. pmc Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    J Clin Invest 117:765-72. 2007
    ....
  40. doi Clinical and biochemical heterogeneity associated with fumarase deficiency
    Chris Ottolenghi
    Service de Biochimie Métabolique, Hopital Necker Enfants Malades, Université Paris Descartes et Assistance Publique Hôpitaux de Paris, Paris, France
    Hum Mutat 32:1046-52. 2011
    ..The tumoral risk in the patients and their relatives requires adequate screening protocols...
  41. pmc Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
    Vanessa Vedrenne
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine and INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    Am J Hum Genet 91:912-8. 2012
    ..In conclusion, we report here abnormal RNA import into mitochondria as a cause of respiratory-chain deficiency...
  42. pmc Natural history of Barth syndrome: a national cohort study of 22 patients
    Charlotte Rigaud
    AP HP, Registre Français des Neutropénies Chroniques Sévères, Centre de Référence des Déficits Immunitaires Héréditaires, Service d Hémato oncologie Pédiatrique Hôpital Trousseau, Paris, France
    Orphanet J Rare Dis 8:70. 2013
    ..This study describes the natural history of Barth syndrome (BTHS)...
  43. pmc The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Lekbir Baala
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:186-94. 2007
    ..No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3...
  44. ncbi Respiratory chain deficiency presenting as congenital nephrotic syndrome
    Alice Goldenberg
    Departement de Genetique Medicale, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Pediatr Nephrol 20:465-9. 2005
    ..Mitochondrial RC complex II+V deficiency was identified in the three patients. Based on these observations, we suggest that RC disorders should be considered in patients with congenital NS...
  45. ncbi Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism
    Irina Giurgea
    Department of Pediatrics, Hopital Necker Enfants Malades, 75743 Paris, France
    J Clin Endocrinol Metab 89:925-9. 2004
    ..We conclude that AIRs to calcium and tolbutamide stimulation tests are not sufficient to differentiate the focal from the diffuse CHI patients...
  46. ncbi Successful treatment of congenital hyperinsulinism with long-acting release octreotide
    Kim Hanh Le Quan Sang
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker Enfants Malades, AP HP, Universite Paris Descartes, 149 rue de Sevres, 75015 Paris, France
    Eur J Endocrinol 166:333-9. 2012
    ..Congenital hyperinsulinism (HI) is a common cause of hypoglycemia in infancy. The medical treatment of diazoxide-unresponsive HI is based on a somatostatin analogue...
  47. ncbi [Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]
    Nathalie Boddaert
    Service de Radiologie Pediatrique, ERM 0205, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Med Sci (Paris) 21:981-6. 2005
    ..PET with [18F]Fluoro-L-DOPA has been validated as a reliable test to differentiate diffuse and focal HI and is now a major differential diagnosis tool in infantile hyperinsulinemic hypoglycaemia...
  48. doi Cardiomyopathies in propionic aciduria are reversible after liver transplantation
    Stephane Romano
    Metabolic Unit and Reference Center of Metabolic Diseases, Hopital Necker Enfants Malades, Universite Paris Descartes, Paris, France
    J Pediatr 156:128-34. 2010
    ..To evauluate the relationship between propionic acidemia (PA) and cardiomyopathy...
  49. doi Unusual magnetic resonance imaging features in Menkes disease
    Christine Barnerias
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, 149 rue de Sevres, AP HP, 75743 Paris Cedex 15, France
    Brain Dev 30:489-92. 2008
    ..Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure...
  50. ncbi Persistent hyperinsulinaemic hypoglycaemia
    Pascale de Lonlay
    Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
    Semin Neonatol 7:95-100. 2002
    ..Focal lesions are effectively treated by limited pancreatic resection while diffuse lesions which are unresponsive to drug or dietary treatment require extensive pancreatectomy with high risk of diabetes mellitus...
  51. ncbi Neonatal hypoglycaemia: aetiologies
    Pascale de Lonlay
    Department of Paediatrics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Semin Neonatol 9:49-58. 2004
    ..Other causes of hypoglycaemia have also been identified recently, namely glucose transporter disorders, respiratory chain disorders and congenital disorders of glycosylation...
  52. doi Toward genotype phenotype correlations in GFM1 mutations
    Louise Galmiche
    Department of Genetics, Hopital Necker Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sevres, 75015 Paris, France
    Mitochondrion 12:242-7. 2012
    ..By modeling the structure of the protein and the position of the various mutations we suggest that the clinical phenotypes of the patients could be related to the localization of the mutations...
  53. ncbi Epilepsy in Menkes disease: analysis of clinical stages
    Nadia Bahi-Buisson
    Service de Maladies métaboliques et Neurologie Pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Epilepsia 47:380-6. 2006
    ..Epilepsy is one of the main features of Menkes disease (MD), although it is not described in depth. To determine the spectrum of epilepsy, we studied its main characteristics...
  54. pmc The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process
    Delphine Peric
    INSERM U773 CRB3, Paris, France
    PLoS ONE 5:e11675. 2010
    ..Here, we examine fOSGN2-P generation in cells from patients with type I Congenital Disorders of Glycosylation (CDG I) in which defects in the dolichol cycle cause accumulation of immature DLO intermediates and protein hypoglycosylation...
  55. ncbi Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease
    Vassili Valayannopoulos
    Metabolic Unit, Necker Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France
    J Pediatr 149:713-7. 2006
    ..Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients...
  56. ncbi Allogeneic bone marrow transplantation in mevalonic aciduria
    Benedicte Neven
    Unité d Immuno Hématologie et Rhumatologie Pédiatrique, Assistance Publique Hopitaux de Paris, Paris, France
    N Engl J Med 356:2700-3. 2007
    ..We observed sustained remission of febrile attacks and inflammation during a 15-month follow-up period...
  57. doi Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
    Nadia Leticee
    AP HP, Hopital Necker Enfants Malades, Centre de médecine fœtale et Maternité de Necker Brune, Paris, France
    Mol Genet Metab 101:253-7. 2010
    ..The accurate diagnosis is important in terms of counseling during pregnancy or later, in order to allow an early molecular prenatal diagnosis for the following pregnancies...
  58. doi KATP channel mutations in congenital hyperinsulinism
    Cécile Saint-Martin
    Department of Genetics, AP HP Hopital Pitie Salpetriere, Universite Pierre et Marie Curie, Paris, France
    Semin Pediatr Surg 20:18-22. 2011
    ..Some patients with diffuse forms also carried a single K(ATP) channel mutation. In contrast, K(ATP) mutations are involved in 15% of diazoxide-responsive CHI cases that are either sporadic or dominantly inherited...
  59. ncbi Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects
    Angels Garcia-Cazorla
    Metabolic Diseases Unit, Centre Hospitalier Universitaire Necker Enfants Malades, Paris, France
    Ann Neurol 59:121-7. 2006
    ..Recently, therapeutic possibilities have been introduced. We aimed to report the largest series of the B type of PC deficiency, focusing on some neurological aspects that have not yet been documented...
  60. pmc Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy
    Hanna Debiec
    Institut National de la Sante et de la Recherche Medicale, Unité Mixte de Recherche_S 702, Paris, France
    J Am Soc Nephrol 25:675-80. 2014
    ..Considering the critical requirement for ERT in patients with such enzyme deficiencies, immune tolerance induction should be advocated in the patients with allo-immune MN. ..
  61. ncbi Underdiagnosis of mild congenital disorders of glycosylation type Ia
    Irina Giurgea
    Department of Pediatrics and Department of Genetics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Pediatr Neurol 32:121-3. 2005
    ..Intellectual retardation is often overestimated because of dysarthria and motor difficulties. Psychomotor reeducation might improve quality of life...
  62. ncbi A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element
    Manuele Mine
    Centre de Recherches Thérapeutiques en Ophtalmologie, Faculte de Medecine Necker, Paris, France
    Hum Mutat 28:137-42. 2007
    ..Our finding not only serves as an important complement to the in vitro approaches to studying L1 retrotransposition, but also reveals a novel mechanism causing human genetic disease...
  63. ncbi PMM2 intronic branch-site mutations in CDG-Ia
    Sandrine Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, AP HP, Paris, France
    Mol Genet Metab 87:337-40. 2006
    ..This kind of mutation can cause a problem in molecular diagnosis of CDG-Ia if intronic primers are not correctly chosen, and if molecular diagnosis is not performed at both the DNA and mRNA levels...
  64. ncbi Hypothalamic lipoma associated with severe obesity. Report of 2 cases
    Stephanie Puget
    Department of Pediatric Neurosurgery, Necker Hopsital, Universite Paris Descaretes, Paris, France
    J Neurosurg Pediatr 4:147-50. 2009
    ..These cases highlight the importance of performing cranial MR imaging in children with otherwise unexplained obesity...
  65. ncbi Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome
    Paule Benit
    Département de génétique, Maternité and INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, France
    Hum Genet 112:563-6. 2003
    ..More generally, we suggest giving consideration to a more systematic microsatellite analysis of putative disease loci for identification of disease genes in inbred/multiplex families affected with genetically heterogeneous conditions...
  66. pmc Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Arch Dis Child 92:568-70. 2007
  67. ncbi The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma
    Christine Sempoux
    Department of Pathology ANPS 1712, Cliniques Universitaires St Luc, University Hospital, U C L Avenue Hippocrate 10, B 1200 Brussels, Belgium
    Diabetes 52:784-94. 2003
    ..The 11p15 LOH and absence of CDKN1C peptide staining are demonstrated in all FoPHHI but also in three of eight insulinomas. Despite some molecular similarities, FoPHHI is thus fundamentally different from insulinoma...
  68. doi Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism
    Naziha Khen-Dunlop
    Diabetes Care 31:e71. 2008
  69. ncbi Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy
    Maria Joao Ribeiro
    Life Sciences Division, Biomedical Imaging Institute, Frédéric Joliot Hospital, CEA, Orsay, France
    Endocr Dev 12:55-66. 2007
    ..Therefore, we have evaluated the use of PET with [18F]fluoro-L-DOPA, a precursor of catecholamines, to image the pancreas and distinguish focal from diffuse HI...
  70. ncbi Molecular mechanisms of neonatal hyperinsulinism
    Irina Giurgea
    INSERM U654 and Department of Genetics, Hopital Henri Mondor, Creteil, France
    Horm Res 66:289-96. 2006
    ..However, secondary causes of hyperinsulinism have to be considered such as fatty acid oxidation deficiency, congenital disorders of glycosylation and factitious hypoglycaemia secondary to Munchausen by proxy syndrome...
  71. ncbi The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
    Irina Giurgea
    INSERM U654, and Department of Genetics, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France
    J Clin Endocrinol Metab 91:4118-23. 2006
    ..5. Plurifocal or large forms of focal CHI are a cause of apparent failure of surgery, and their underlying mechanism has not been thoroughly investigated...