Ogier H - Search Results

1

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C. Gibson KM, et al. Among authors: ogier h. J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016. J Inherit Metab Dis. 1994. PMID: 7707697

2

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

Gibson KM, Jakobs C, Ogier H, Hagenfeldt L, Eeg-Olofsson KE, Eeg-Olofsson O, Aksu F, Weber HP, Rossier E, Vollmer B, et al. Gibson KM, et al. Among authors: ogier h. J Inherit Metab Dis. 1995;18(2):143-6. doi: 10.1007/BF00711750. J Inherit Metab Dis. 1995. PMID: 7564230 No abstract available.

3

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

Chambliss KL, Lee CF, Ogier H, Rabier D, Jakobs C, Gibson KM. Chambliss KL, et al. Among authors: ogier h. J Inherit Metab Dis. 1993;16(3):523-6. doi: 10.1007/BF00711671. J Inherit Metab Dis. 1993. PMID: 7609442 No abstract available.

4

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Jakobs C, Ogier H, Rabier D, Gibson KM. Jakobs C, et al. Among authors: ogier h. Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213. Prenat Diagn. 1993. PMID: 8464836 No abstract available.

5

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Poll-The BT, Bonnefont JP, Ogier H, Charpentier C, Pelet A, Le Fur JM, Jakobs C, Kok RM, Duran M, Divry P, et al. Poll-The BT, et al. Among authors: ogier h. J Inherit Metab Dis. 1988;11 Suppl 2:183-5. doi: 10.1007/BF01804230. J Inherit Metab Dis. 1988. PMID: 2846959 No abstract available.

6

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.

Garel C, Baumann C, Besnard M, Ogier H, Jaeken J, Hassan M. Garel C, et al. Among authors: ogier h. Skeletal Radiol. 1998 Jan;27(1):43-5. doi: 10.1007/s002560050335. Skeletal Radiol. 1998. PMID: 9507611

7

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: ogier h. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.

8

Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

Saudubray JM, Ogier H, Bonnefont JP, Munnich A, Lombes A, Hervé F, Mitchel G, Thé BP, Specola N, Parvy P, et al. Saudubray JM, et al. Among authors: ogier h. J Inherit Metab Dis. 1989;12 Suppl 1:25-41. doi: 10.1007/BF01799284. J Inherit Metab Dis. 1989. PMID: 2509810

9

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray JM, Lemonnier A. Brivet M, et al. Among authors: ogier h. J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805. J Inherit Metab Dis. 1994. PMID: 7807931 No abstract available.

10

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

Wadman SK, Duran M, Beemer FA, Cats BP, Johnson JL, Rajagopalan KV, Saudubray JM, Ogier H, Charpentier C, Berger R, et al. Wadman SK, et al. Among authors: ogier h. J Inherit Metab Dis. 1983;6 Suppl 1:78-83. doi: 10.1007/BF01811328. J Inherit Metab Dis. 1983. PMID: 6413778

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