Associated Papers
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › PTS_Short_Var_Pathogenetic
Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
Qiu X et al.
Frontiers in Genetics, 2023
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 2022
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
Xie K et al.
Frontiers in Genetics, 2022
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
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