- 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...
- 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...
- TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea
INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
Hum Mutat 29:E242-51. 2008..In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis...
- Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Nadege Bondurand
INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
Am J Hum Genet 81:1169-85. 2007..This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS...
- 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...
- 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...
- Hyperinsulinemic hypoglycemia in childrenP de Lonlay
Necker Hospital, Paris, France
Ann Endocrinol (Paris) 65:96-8. 2004
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activityTim Ulinski
Department of Pediatric Nephrology, Hopital Trousseau, 75571 Paris Cedex 12, France
J Clin Endocrinol Metab 91:192-5. 2006..APECED's first manifestation generally is mucocutaneous candidiasis presumably related to T cell dysfunction...
- 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...
- Respiratory chain defects may present only with hypoglycemiaFanny Mochel
Service des Maladies Métaboliques, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
J Clin Endocrinol Metab 90:3780-5. 2005....
- 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...
- 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...