Associated Papers
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf
BLM germline and somatic PKMYT1 and AHCY mutations: Genetic variations beyond MYCN and prognosis in neuroblastoma.
Novak EM et al.
Medical Hypotheses, 2016
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R et al.
Biochemical and Biophysical Research Communications, 2008
Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.
Fumić K et al.
European Journal of Human Genetics : Ejhg, 2007
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