Abeling NG - Search Results

1

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. Bosch AM, et al. Among authors: abeling ng. Orphanet J Rare Dis. 2012 Oct 29;7:83. doi: 10.1186/1750-1172-7-83. Orphanet J Rare Dis. 2012. PMID: 23107375 Free PMC article. Review.

2

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

Peuscher R, Dijsselhof ME, Abeling NG, Van Rijn M, Van Spronsen FJ, Bosch AM. Peuscher R, et al. Among authors: abeling ng. JIMD Rep. 2012;5:127-30. doi: 10.1007/8904_2011_115. Epub 2011 Dec 25. JIMD Rep. 2012. PMID: 23430928 Free PMC article.

3

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, Koevoets C, Wanders RJ, Hennekam RC. van Karnebeek CD, et al. Among authors: abeling ng. Am J Ment Retard. 2005 Jul;110(4):253-67. doi: 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2. Am J Ment Retard. 2005. PMID: 15941363

4

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.

Bosch AM, Sillevis Smitt JH, Van Gennip AH, Abeling NG, Schutgens RB, Bakker HD, Wijburg FA. Bosch AM, et al. Among authors: abeling ng. Br J Dermatol. 1998 Sep;139(3):488-91. doi: 10.1046/j.1365-2133.1998.02415.x. Br J Dermatol. 1998. PMID: 9767296

5

L-2-hydroxyglutaric aciduria and lactic acidosis.

Barth PG, Wanders RJ, Scholte HR, Abeling N, Jakobs C, Schutgens RB, Vreken P. Barth PG, et al. J Inherit Metab Dis. 1998 Jun;21(3):251-4. doi: 10.1023/a:1005316121584. J Inherit Metab Dis. 1998. PMID: 9686369 No abstract available.

6

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.

Bakker HD, Wanders RJ, Schutgens RB, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1993;16(6):1061-2. doi: 10.1007/BF00711535. J Inherit Metab Dis. 1993. PMID: 8127066 No abstract available.

7

A far advanced case of gyrate atrophy in a 12-year-old girl.

Bakker HD, Abeling NG, van Schooneveld MJ, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1991;14(3):379-81. doi: 10.1007/BF01811708. J Inherit Metab Dis. 1991. PMID: 1770797 No abstract available.

8

Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E.

Bakker HD, Scholte HR, Van den Bogert C, Jeneson JA, Ruitenbeek W, Wanders RJ, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1993;16(3):548-52. doi: 10.1007/BF00711678. J Inherit Metab Dis. 1993. PMID: 7609449 No abstract available.

9

Molybdenum cofactor deficiency can mimic postanoxic encephalopathy.

Bakker HD, Abeling NG, ten Houten R, van den Blij JF, Overweg-Plandsoen WC, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1993;16(5):900-1. doi: 10.1007/BF00714290. J Inherit Metab Dis. 1993. PMID: 8295412 No abstract available.

10

Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.

Bakker HD, Scholte HR, Van den Bogert C, Ruitenbeek W, Jeneson JA, Wanders RJ, Abeling NG, Dorland B, Sengers RC, Van Gennip AH. Bakker HD, et al. Among authors: abeling ng. Pediatr Res. 1993 Apr;33(4 Pt 1):412-7. doi: 10.1203/00006450-199304000-00019. Pediatr Res. 1993. PMID: 8479824

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