Associated Papers
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC et al.
Human Mutation, 2006
Select a paper to view details