Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening | Zendy

Derek A. Wong | Zendy; Silvia Tortorelli | Zendy; L.A. Bishop | Zendy; Elizabeth A. Sellars | Zendy; Lisa A. Schimmenti | Zendy; Natalie M. Gallant | Zendy; Carlos E. Prada | Zendy; Robert J. Hopkin | Zendy; Nancy D. Leslie | Zendy; Susan A. Berry | Zendy; David S. Rosenblatt | Zendy; Amy L. Fair | Zendy; Dietrich Matern | Zendy; Kimiyo Raymond | Zendy; Devin Oglesbee | Zendy; Piero Rinaldo | Zendy; Dimitar Gavrilov | Zendy

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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Author(s) -

Derek A. Wong,

Silvia Tortorelli,

L.A. Bishop,

Elizabeth A. Sellars,

Lisa A. Schimmenti,

Natalie M. Gallant,

Carlos E. Prada,

Robert J. Hopkin,

Nancy D. Leslie,

Susan A. Berry,

David S. Rosenblatt,

Amy L. Fair,

Dietrich Matern,

Kimiyo Raymond,

Devin Oglesbee,

Piero Rinaldo,

Dimitar Gavrilov

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.45

Subject(s) - methylenetetrahydrofolate reductase , homocysteine , asymptomatic , pediatrics , medicine , newborn screening , biology , genetics , allele , gene

We evaluated the clinical outcome in homocysteine remethylation disorders following newborn screening (NBS) and initiation of early specific treatment.

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