Associated Papers
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
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
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
Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
Zahra C et al.
Bmc Medical Genetics, 2016
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J et al.
Annals of Neurology, 2012
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Arrabal L et al.
Neurogenetics, 2011
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Farrugia R et al.
Molecular Genetics and Metabolism, 2007
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
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