Associated Papers
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Pascual A et al.
International Journal of Molecular Sciences, 2025
41096722 (PubMed )
Supplement: ijms-26-09454-s001.zip › ijms-3869459-supplementary.pdf
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S et al.
Orphanet Journal of Rare Diseases, 2018
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Brasil S et al.
Clinical Genetics, 2015
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