Rabier D - Search Results

1

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).

Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, Munnich A. Philippe A, et al. Among authors: rabier d. Dev Med Child Neurol. 2004 Aug;46(8):564-8. doi: 10.1017/s0012162204000933. Dev Med Child Neurol. 2004. PMID: 15287248 Free article.

2

Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.

Arnulf I, Konofal E, Gibson KM, Rabier D, Beauvais P, Derenne JP, Philippe A. Arnulf I, et al. Among authors: rabier d. Sleep. 2005 Apr;28(4):418-24. doi: 10.1093/sleep/28.4.418. Sleep. 2005. PMID: 16171286

3

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

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

4

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al. Gibson KM, et al. Among authors: rabier d. Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567. Pediatrics. 1997. PMID: 9093300 Free article.

5

Facial anomalies in D-2-hydroxyglutaric aciduria.

Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Amiel J, et al. Among authors: rabier d. Am J Med Genet. 1999 Sep 10;86(2):124-9. Am J Med Genet. 1999. PMID: 10449646 Review.

6

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.

Gibson KM, Doskey AE, Rabier D, Jakobs C, Morlat C. Gibson KM, et al. Among authors: rabier d. J Inherit Metab Dis. 1997 Jul;20(3):370-4. doi: 10.1023/a:1005334129412. J Inherit Metab Dis. 1997. PMID: 9266358 No abstract available.

7

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chrétien D, Rötig A, Rabier D, Saudubray JM, Rustin P, Munnich A. Parfait B, et al. Among authors: rabier d. Eur J Pediatr. 1999 Jan;158(1):55-8. doi: 10.1007/s004310051009. Eur J Pediatr. 1999. PMID: 9950309

8

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

Cosson MA, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, Verkarre V, Chrétien D, Rabier D, Munnich A, Benoist JF, de Keyzer Y, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: rabier d. Mol Genet Metab. 2008 Sep-Oct;95(1-2):107-9. doi: 10.1016/j.ymgme.2008.06.007. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676166

9

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

Valayannopoulos V, Hubert L, Benoist JF, Romano S, Arnoux JB, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre AS, Munnich A, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: rabier d. J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19277894

10

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: rabier d. J Inherit Metab Dis. 1993;16(3):523-6. doi: 10.1007/BF00711671. J Inherit Metab Dis. 1993. PMID: 7609442 No abstract available.

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