Genomes and Genes
Pascale de Lonlay
- [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...
- Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 casesPascale 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...
- Facial appearance in persistent hyperinsulinemic hypoglycemiaPascale 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...
- Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2Nadia 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...
- Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesisChristine 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...
- Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathyMagalie 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...
- Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionM 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...
- CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresJulie 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...
- Coexistence in the same family of both focal and diffuse forms of hyperinsulinismVassili Valayannopoulos
Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
Diabetes Care 30:1590-2. 2007
- Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretionPascale 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...
- Fatal rhabdomyolysis in 2 children with LPIN1 mutationsJean 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...
- Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduriaYves 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...
- Neurological aspects of hyperinsulinism-hyperammonaemia syndromeNadia 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...
- Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxyIrina 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...
- Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinismJacques 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...
- LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline 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...
- Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenaseNadia 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...
- Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenaseYohan 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....
- [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...
- Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndromeCoralie 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...
- Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemiaSvetlana 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...
- Congenital hyperinsulinism: current trends in diagnosis and therapyJean 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...
- Congenital hyperinsulinismJean 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...
- Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletionAlice 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...
- Respiratory chain deficiency in a female with Aicardi-Goutières syndromeChristine 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...
- Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhoodEmmanuelle 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...
- Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot
Paris Descartes University, INSERM U781 and Reference Center of Metabolic Diseases, Necker Hospital, Paris, France
J Inherit Metab Dis 35:1119-28. 2012....
- Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurredSvetlana Gataullina
Neuropediatrics Department, Necker Enfants Malades Hospital, AP HP, Paris, France
Dev Med Child Neurol 55:162-6. 2013....
- Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiencySophie 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...
- What's new in metabolic and genetic hypoglycaemias: diagnosis and managementVassili 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...
- Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patientsAngels 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...
- Long-term neurological outcome of a cohort of 80 patients with classical organic aciduriasMathilde 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....
- Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblastsCaroline 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. ..
- Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiencyMathilde 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. ..
- The surgical management of atypical forms of congenital hyperinsulinismCarmen 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...
- Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failureVanessa 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...
- Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrateFatima Djouadi
INSERM UMR 1124, Universite Paris Descartes, Centre Universitaire des Saints Peres, 45 Rue des Saints Peres, 75006, Paris, France
J Inherit Metab Dis 39:47-58. 2016....
- Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsAnaïs Brassier
Reference Center of Inherited Metabolic Diseases and units of metabolism and neurology, 149 rue de Sevres, 75015, Paris, France
Orphanet J Rare Dis 10:58. 2015..The principal aim of this study was to investigate the long-term outcomes of a large cohort of patients with ornithine transcarbamylase deficiency (OTCD) who were followed up at a single medical center...
- Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndromeAnaïs 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...
- Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disordersJulie Mollet
INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Paris, France
J Clin Invest 117:765-72. 2007....
- Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changesLucie 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...
- Clinical and biochemical heterogeneity associated with fumarase deficiencyChris 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...
- Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiencyVanessa 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...
- Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully
Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sevres, 75015, Paris, France
Neurogenetics . 2016....
- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like ProfilesClément Pontoizeau
Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, University of Paris Descartes, Institut Imagine, Paris, France
JIMD Rep 27:39-45. 2016..Analysis of our full cohort of >50,000 samples from >30,000 patients suggests that the proline/alanine ratio may be a good marker of MAD deficiency and could contribute to a more effective management of the treatable forms. ..
- Natural history of Barth syndrome: a national cohort study of 22 patientsCharlotte 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)...
- The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir 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...
- Respiratory chain deficiency presenting as congenital nephrotic syndromeAlice 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...
- Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinismIrina 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...
- Successful treatment of congenital hyperinsulinism with long-acting release octreotideKim 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...
- Unusual magnetic resonance imaging features in Menkes diseaseChristine 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...
- Cardiomyopathies in propionic aciduria are reversible after liver transplantationStephane 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...
- [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...
- Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthoodWladimir Mauhin
Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France
Orphanet J Rare Dis 12:3. 2017..This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management...
- Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuriaJean Baptiste Arnoux
Reference Centre for Inherited Metabolic Diseases Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, 149 rue de Sevres, Paris, 75015, France
J Inherit Metab Dis 38:791-6. 2015..Here we propose a treatment strategy for children and adults with AKU, based on a review of the latest findings on AKU and lessons from other aminoacipathies, especially tyrosinemias. ..
- Acute rhabdomyolysis and inflammationYamina Hamel
Institut Imagine, Institut National de la Sante et de la Recherche Medicale, Unité 1163, 75015, Paris, France
J Inherit Metab Dis 38:621-8. 2015..Thus, not only thermolability of mutant proteins critical for muscle function, but also pro-inflammatory cytokines per se, may lead to metabolic decompensation and rhabdomyolysis. ..
- Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas
1 INSERM U1163, Hopital Necker Enfants Malades, Paris, France 2 Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France
Eur J Hum Genet 23:621-7. 2015..Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. ..
- Persistent hyperinsulinaemic hypoglycaemiaPascale 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...
- Neonatal hypoglycaemia: aetiologiesPascale 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...
- Toward genotype phenotype correlations in GFM1 mutationsLouise 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...
- Epilepsy in Menkes disease: analysis of clinical stagesNadia 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...
- Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ diseaseVassili 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...
- The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation processDelphine 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...
- A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemiaAsmaa Mamoune
INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker, AP HP, Paris, France
PLoS Genet 10:e1004711. 2014..Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease. ..
- Allogeneic bone marrow transplantation in mevalonic aciduriaBenedicte 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...
- 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...
- KATP channel mutations in congenital hyperinsulinismCécile 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...
- Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspectsAngels 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...
- 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeMarie Lorraine Monin
AP HP, Groupe Hospitalier Pitie Salpetriere, Département de génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47 83 boulevard de l Hopital, Paris, 75013, France
Orphanet J Rare Dis 9:207. 2014..Additionally, our findings add weight to the view that PMM2-CDG may be diagnosed in teenage/adult patients with cerebellar atrophy, even in the absence of intellectual deficiency or non-neurological involvement...
- Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapyHanna 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. ..
- Underdiagnosis of mild congenital disorders of glycosylation type IaIrina 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...
- Hypothalamic lipoma associated with severe obesity. Report of 2 casesStephanie 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...
- PMM2 intronic branch-site mutations in CDG-IaSandrine 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...
- A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 elementManuele 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...
- 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 syndromePaule 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...
- Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinismNaziha Khen-Dunlop
Diabetes Care 31:e71. 2008
- The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinomaChristine 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...
- Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during managementKhalid 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
- Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancyMaria 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...
- Molecular mechanisms of neonatal hyperinsulinismIrina 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...
- The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinismIrina 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...