Why screen newborns for profound and partial biotinidase deficiency?

Barry Wolf

doi:10.1016/j.ymgme.2015.01.003

Why screen newborns for profound and partial biotinidase deficiency?

Barry Wolf^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Comment/debate › peer-review

31 Scopus citations

Original language	English (US)
Pages (from-to)	382-387
Number of pages	6
Journal	Molecular Genetics and Metabolism
Volume	114
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2015.01.003
State	Published - Mar 1 2015

Keywords

Biotinidase
Biotinidase deficiency
Newborn screening
Partial biotinidase deficiency
Profound biotinidase deficiency
Screening

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.ymgme.2015.01.003

Cite this

@article{a0f9ebd7a7f74ed1833c786f1ec0ceb7,

title = "Why screen newborns for profound and partial biotinidase deficiency?",

keywords = "Biotinidase, Biotinidase deficiency, Newborn screening, Partial biotinidase deficiency, Profound biotinidase deficiency, Screening",

author = "Barry Wolf",

note = "Funding Information: This work was supported in part by the Safra Research Fund .",

year = "2015",

month = mar,

day = "1",

doi = "10.1016/j.ymgme.2015.01.003",

language = "English (US)",

volume = "114",

pages = "382--387",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",