Literature DB >> 10863937

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

J M Saudubray1, P de Lonlay, G Touati, D Martin, M C Nassogne, P Castelnau, C Sevin, C Laborde, C Baussan, M Brivet, A Vassault, D Rabier, J P Bonnefont, P Kamoun.   

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Year:  2000        PMID： 10863937     DOI： 10.1023/a:1005675827612

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  63 in total

1.  Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

Authors:  P de Lonlay; J C Fournet; J Rahier; M S Gross-Morand; F Poggi-Travert; V Foussier; J P Bonnefont; M C Brusset; F Brunelle; J J Robert; C Nihoul-Fékété; J M Saudubray; C Junien
Journal:  J Clin Invest       Date:  1997-08-15       Impact factor: 14.808

2.  Hypoglycemia in infancy: the need for a rational definition. A Ciba Foundation discussion meeting.

Authors:  M Cornblath; R Schwartz; A Aynsley-Green; J K Lloyd
Journal:  Pediatrics       Date:  1990-05       Impact factor: 7.124

3.  Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

Authors:  P Thomas; Y Ye; E Lightner
Journal:  Hum Mol Genet       Date:  1996-11       Impact factor: 6.150

4.  Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

Authors:  C A Stanley; Y K Lieu; B Y Hsu; A B Burlina; C R Greenberg; N J Hopwood; K Perlman; B H Rich; E Zammarchi; M Poncz
Journal:  N Engl J Med       Date:  1998-05-07       Impact factor: 91.245

5.  Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

Authors:  P F Bougnères; J M Saudubray; C Marsac; O Bernard; M Odièvre; J Girard
Journal:  J Pediatr       Date:  1981-05       Impact factor: 4.406

6.  Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role.

Authors:  J Rahier; C Sempoux; J C Fournet; F Poggi; F Brunelle; C Nihoul-Fekete; J M Saudubray; F Jaubert
Journal:  Histopathology       Date:  1998-01       Impact factor: 5.087

7.  Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency.

Authors:  A A Morris; C V Lascelles; S E Olpin; B D Lake; J V Leonard; P A Quant
Journal:  Pediatr Res       Date:  1998-09       Impact factor: 3.756

8.  Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia.

Authors:  A Goossens; W Gepts; J M Saudubray; J P Bonnefont; P U Heitz; G Klöppel
Journal:  Am J Surg Pathol       Date:  1989-09       Impact factor: 6.394

Review 9.  Hyperketotic states due to inherited defects of ketolysis.

Authors:  J M Saudubray; N Specola; B Middleton; A Lombes; J P Bonnefont; C Jakobs; A Vassault; C Charpentier; R Day
Journal:  Enzyme       Date:  1987

Review 10.  The role of the liver in metabolic homeostasis: implications for inborn errors of metabolism.

Authors:  G van den Berghe
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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  2 in total

Review 1.  Insulinoma: only in adults?-case reports and literature review.

Authors:  Tiziana Gozzi Graf; Michael Brändle; Thomas Clerici; Dagmar l'Allemand
Journal:  Eur J Pediatr       Date:  2013-04-21       Impact factor: 3.183

2.  An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.

Authors:  Rita Christopher; Bindu P Sankaran
Journal:  Ann Indian Acad Neurol       Date:  2008-04       Impact factor: 1.383
  2 in total

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