Saudubray JM - Search Results

1

[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.

2

Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.

Odievre MH, Sevin C, Laurent J, Laboureau JP, Rabier D, Brivet M, Roe C, Wanders RJ, Saudubray JM. Odievre MH, et al. Among authors: saudubray jm. Acta Paediatr. 2002;91(6):719-22. doi: 10.1080/080352502760069197. Acta Paediatr. 2002. PMID: 12162610

3

[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)].

Bodemer C, Bonnefont JP, Saudubray JM, Teillac D, De Prost Y. Bodemer C, et al. Among authors: saudubray jm. Ann Dermatol Venereol. 1989;116(11):798-800. Ann Dermatol Venereol. 1989. PMID: 2619165 French. No abstract available.

4

Hair and skin disorders as signs of mitochondrial disease.

Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y. Bodemer C, et al. Among authors: saudubray jm. Pediatrics. 1999 Feb;103(2):428-33. doi: 10.1542/peds.103.2.428. Pediatrics. 1999. PMID: 9925836

5

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.

Bodemer C, De Prost Y, Bachollet B, Poggi F, Teillac-Hamel D, Fraitag S, Saudubray JM. Bodemer C, et al. Among authors: saudubray jm. Br J Dermatol. 1994 Jul;131(1):93-8. doi: 10.1111/j.1365-2133.1994.tb08463.x. Br J Dermatol. 1994. PMID: 8043426

6

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Poll-The BT, Saudubray JM, Ogier HA, Odièvre M, Scotto JM, Monnens L, Govaerts LC, Roels F, Cornelis A, Schutgens RB, et al. Poll-The BT, et al. Among authors: saudubray jm. Eur J Pediatr. 1987 Sep;146(5):477-83. doi: 10.1007/BF00441598. Eur J Pediatr. 1987. PMID: 2445576

7

[Meningitis due to Bacillus cereus in an infant with Reye syndrome].

Ferroni A, Odièvre MH, Abachin E, Révy P, Casanova JL, Saudubray JM, Berche P, Nassif X. Ferroni A, et al. Among authors: saudubray jm. Arch Pediatr. 1998 Oct;5(10):1103-6. doi: 10.1016/s0929-693x(99)80008-6. Arch Pediatr. 1998. PMID: 9809154 French.

8

[Type II oculo-cutaneous tyrosinosis].

Gounod N, Ogier H, Dufier JL, Larrègue M, Saudubray JM, de Prost Y. Gounod N, et al. Among authors: saudubray jm. Ann Dermatol Venereol. 1984;111(8):697-8. Ann Dermatol Venereol. 1984. PMID: 6152137 French. No abstract available.

9

[Carbohydrate-deficient blood glycoprotein syndrome].

de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: saudubray jm. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. French.

10

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.

Thuillier L, Sevin C, Demaugre F, Brivet M, Rabier D, Droin V, Aupetit J, Abadi N, Kamoun P, Saudubray JM, Bonnefont JP. Thuillier L, et al. Among authors: saudubray jm. Neuromuscul Disord. 2000 Mar;10(3):200-5. doi: 10.1016/s0960-8966(99)00096-6. Neuromuscul Disord. 2000. PMID: 10734268

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