Saudubray JM - Search Results

1

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P. Munnich A, et al. Among authors: saudubray jm. Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711. Eur J Pediatr. 1996. PMID: 8777918 Review.

2

Clinical approach to treatable inborn metabolic diseases: an introduction.

Saudubray JM, Sedel F, Walter JH. Saudubray JM, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):261-74. doi: 10.1007/s10545-006-0358-0. J Inherit Metab Dis. 2006. PMID: 16763886 Review.

3

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, Durand G, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: saudubray jm. J Pediatr. 1999 Sep;135(3):379-83. doi: 10.1016/s0022-3476(99)70139-3. J Pediatr. 1999. PMID: 10484808

4

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: saudubray jm. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.

5

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. Bonnefont JP, et al. Among authors: saudubray jm. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

6

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].

Vabres P, Sevin C, Amoric JC, Odièvre MH, Saudubray JM, de Prost Y. Vabres P, et al. Among authors: saudubray jm. Ann Dermatol Venereol. 1998 Oct;125(10):715-6. Ann Dermatol Venereol. 1998. PMID: 9835963 Free article. French.

7

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

Oude Luttikhuis HG, Touati G, Rabier D, Williams M, Jakobs C, Saudubray JM. Oude Luttikhuis HG, et al. Among authors: saudubray jm. J Inherit Metab Dis. 2005;28(6):1136-8. doi: 10.1007/s10545-005-4545-1. J Inherit Metab Dis. 2005. PMID: 16435207

8

Clinical approach to inherited metabolic disorders in neonates: an overview.

Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Saudubray JM, et al. Semin Neonatol. 2002 Feb;7(1):3-15. doi: 10.1053/siny.2001.0083. Semin Neonatol. 2002. PMID: 12069534 Review.

9

Liver transplantation in propionic acidaemia.

Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. doi: 10.1007/pl00014325. Eur J Pediatr. 1999. PMID: 10603102

10

Liver transplantation in urea cycle disorders.

Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100

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