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
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.
Dong M et al.
Frontiers in Pediatrics, 2022
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.
Torices L et al.
Molecular Genetics and Metabolism Reports, 2021
An Interprotein Co-S Coordination Complex in the B12-Trafficking Pathway.
Li Z et al.
Journal of the American Chemical Society, 2020
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.
De Las Heras J et al.
Journal of Clinical Medicine, 2020
Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2019
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
Molecular picture of cobalamin C/D defects before and after newborn screening era.
Nogueira C et al.
Journal of Medical Screening, 2017
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Gherasim C et al.
Biochimie, 2013
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D et al.
The New England Journal of Medicine, 2008
Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.
Cancho García E et al.
Neurologia, 0
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