Abeling NG - Search Results

1

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT. Abeling NG, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme.2006.03.010. Epub 2006 May 2. Mol Genet Metab. 2006. PMID: 16650784

2

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT. Jaeger B, et al. Among authors: abeling ng. Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014579 Free PMC article.

3

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: abeling ng. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.

4

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. Ramaekers VT, et al. Mol Genet Metab. 2001 Jun;73(2):179-87. doi: 10.1006/mgme.2001.3187. Mol Genet Metab. 2001. PMID: 11386854 Clinical Trial.

5

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Bakker HD, de Sonnaville ML, Vreken P, Abeling NG, Groener JE, Keulemans JL, van Diggelen OP. Bakker HD, et al. Among authors: abeling ng. Eur J Hum Genet. 2001 Feb;9(2):91-6. doi: 10.1038/sj.ejhg.5200598. Eur J Hum Genet. 2001. PMID: 11313741

6

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.

Bakker HD, Scholte HR, Jeneson JA, Busch HF, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1994;17(2):196-204. doi: 10.1007/BF00711617. J Inherit Metab Dis. 1994. PMID: 7967474

7

The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.

van Gennip AH, Abeling NG, Stroomer AE, Overmars H, Bakker HD. van Gennip AH, et al. Among authors: abeling ng. J Inherit Metab Dis. 1994;17(1):142-5. doi: 10.1007/BF00735420. J Inherit Metab Dis. 1994. PMID: 8051926 No abstract available.

8

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.

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

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

102 results

Search Page

Filters