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Literature DB >> 28337933

Biotinidase deficiency masquerading as multiple sclerosis?

Barry Wolf¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Biotin
Amidohydrolases

Year: 2017 PMID： 28337933 DOI： 10.1177/1352458517702551

Source DB: PubMed Journal: Mult Scler ISSN： 1352-4585 Impact factor: 6.312

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2 in total

1. Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.

Authors: Barry Wolf
Journal: Mult Scler J Exp Transl Clin Date: 2020-04-29

2. Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Authors: Francesco Porta; Veronica Pagliardini; Isabella Celestino; Enza Pavanello; Severo Pagliardini; Ornella Guardamagna; Alberto Ponzone; Marco Spada
Journal: Mol Genet Metab Rep Date: 2017-09-20

2 in total