Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years | Zendy

Allison Jay | Zendy; Robert L. Conway | Zendy; Gerald L. Feldman | Zendy; Adil AlNahhas | Zendy; Linda Spencer | Zendy; Barry Wolf | Zendy

Open Access

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years

Author(s) -

Allison Jay,

Robert L. Conway,

Gerald L. Feldman,

Adil AlNahhas,

Linda Spencer,

Barry Wolf

Publication year - 2014

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.2014.104

Subject(s) - biotinidase deficiency , newborn screening , medicine , pediatrics , physiology

Biotinidase deficiency, if untreated, usually results in neurological and cutaneous symptoms. Biotin supplementation markedly improves and likely prevents symptoms in those treated early. All states in the United States and many countries perform newborn screening for biotinidase deficiency. However, there are few studies about the outcomes of the individuals identified by newborn screening.

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