Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients-Reference-Cited by-同舟云学术

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

Published:2020-09 Issue:1-2 Volume:131 Page:155-162
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Manti Filippo,Nardecchia Francesca,Banderali Giuseppe,Burlina Alberto,Carducci Carla,Carducci Claudia,Donati Maria Alice,Gueraldi Daniela,Paci Sabrina,Pochiero Francesca,Porta Francesco,Ortolano Rita,Rovelli Valentina,Schiaffino Maria Cristina,Spada Marco,Blau Nenad,Leuzzi Vincenzo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001

2. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia;Opladen;J. Inherit. Metab. Dis.,2012

3. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency;Dudesek;Eur. J. Pediatr.,2001

4. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency;Lee;Mol. Genet. Metab.,2006

5. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency;Jäggi;Mol. Genet. Metab.,2008

Cited by 13 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. Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes;Movement Disorders Clinical Practice;2024-07-12

2. Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases;Journal of Clinical Medicine;2024-04-10

3. Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China;Frontiers in Genetics;2023-08-11

4. Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review;Children;2023-04-14

5. Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism;Genes;2023-01-19