Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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 › SPR_Short_Var_Pathogenetic
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases.
Nisar H et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
Mazzuca M et al.
Jimd Reports, 2015
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Arrabal L et al.
Neurogenetics, 2011
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM et al.
Molecular Genetics and Metabolism, 2008
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
Echenne B et al.
Pediatric Neurology, 2006
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