Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates-Reference-Cited by-同舟云学术

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

Published:2001-06 Issue:3 Volume:24 Page:352-358
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Spaapen L. J. M.¹,Bakker J. A.²,Velter C.²,Loots W.²,Rubio-Gonzalbo M. E.¹³,Forget P. P.³,Dorland L.⁴,De Koning T. J.⁴,Poll-The B. T.⁴,Ploos Van Amstel H. K.⁴,Bekhof J.⁵,Blau N.⁶,Duran M.⁴

Affiliation:

1. Department of Biochemical Genetics; Stichting Klinische Genetica Zuid-Oost; Nederland

2. Department of Molecular Genetics; Stichting Klinische Genetica Zuid-Oost Nederland; The Netherlands

3. ; Department of Pediatrics; Academic Hospital Maastricht; The Netherlands

4. ; University Medical Center Utrecht; The Netherlands

5. ; Department of Pediatrics; Academic Hospital Groningen; The Netherlands

6. ; Division of Clinical Chemistry and Biochemistry; University Children's Hospital; Zurich Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010596317296/fullpdf

Reference11 articles.

1. Variant of dihydropteridine reductase deficiency without hyperphenylalaninemia: effect of oral phenylalanine loading;Blau;J Inherit Metab Dis,1999

2. Diagnosis of Dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts;Bonafé;Clin Chem,2001

3. Analysis of reduced forms of biopterin in biological tissues and fluids;Fukushima;Anal Biochem,1980

4. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency;Kure;J Pediatr,1999

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach;Brain and Development;2023-10

2. Cloning and Determination of Kinetic Activity of Thermophilic GCH-I from Anoxybacillus flavithermus DSM 2641T;Journal of Anatolian Environmental and Animal Sciences;2022-04-21

3. Sapropterin dihydrochloride for phenylketonuria;Cochrane Database of Systematic Reviews;2015-03-27

4. Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience;Orphanet Journal of Rare Diseases;2015-02-08

5. Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency;Advances in Therapy;2013-02-20