Sevin C - Search Results

1

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.

Menni F, de Lonlay P, Sevin C, Touati G, Peigné C, Barbier V, Nihoul-Fékété C, Saudubray JM, Robert JJ. Menni F, et al. Among authors: sevin c. Pediatrics. 2001 Mar;107(3):476-9. doi: 10.1542/peds.107.3.476. Pediatrics. 2001. PMID: 11230585

2

[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: sevin c. Ann Dermatol Venereol. 1998 Oct;125(10):715-6. Ann Dermatol Venereol. 1998. PMID: 9835963 Free article. French.

3

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: sevin c. Neuromuscul Disord. 2000 Mar;10(3):200-5. doi: 10.1016/s0960-8966(99)00096-6. Neuromuscul Disord. 2000. PMID: 10734268

4

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: sevin c. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.

5

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.

de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ. de Lonlay P, et al. Among authors: sevin c. Eur J Pediatr. 2002 Jan;161(1):37-48. doi: 10.1007/s004310100847. Eur J Pediatr. 2002. PMID: 11808879 Review.

6

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: sevin c. Acta Paediatr. 2002;91(6):719-22. doi: 10.1080/080352502760069197. Acta Paediatr. 2002. PMID: 12162610

7

A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

Gardin A, Mussini C, Héron B, Schiff M, Brassier A, Dobbelaere D, Broué P, Sevin C, Vanier MT, Habes D, Jacquemin E, Gonzales E. Gardin A, et al. Among authors: sevin c. J Pediatr. 2023 Mar;254:75-82.e4. doi: 10.1016/j.jpeds.2022.10.015. Epub 2022 Oct 17. J Pediatr. 2023. PMID: 36265573

8

[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism].

Mikaeloff Y, Pinton F, Sevin C, Dhondt JL, Ponsot G. Mikaeloff Y, et al. Among authors: sevin c. Arch Pediatr. 1999 Jul;6(7):759-61. doi: 10.1016/s0929-693x(99)80360-1. Arch Pediatr. 1999. PMID: 10429818 French.

9

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Becker PH, Demir Z, Mozer Glassberg Y, Sevin C, Habes D, Imbard A, Mussini C, Rozenfeld Bar Lev M, Davit-Spraul A, Benoist JF, Thérond P, Slama A, Jacquemin E, Gonzales E, Gaignard P. Becker PH, et al. Among authors: sevin c. Mol Genet Metab. 2021 Jan;132(1):38-43. doi: 10.1016/j.ymgme.2020.11.007. Epub 2020 Nov 28. Mol Genet Metab. 2021. PMID: 33309011

10

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P. Sevin C, et al. Orphanet J Rare Dis. 2011 Mar 10;6:8. doi: 10.1186/1750-1172-6-8. Orphanet J Rare Dis. 2011. PMID: 21392394 Free PMC article.

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