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
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
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA et al.
Journal of Inherited Metabolic Disease, 2020
31828787 (PubMed )
Supplement: JIMD-43-424-s001.pdf
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient.
Maines E et al.
Jimd Reports, 2017
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.
Human Mutation, 2004
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