A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1-Reference-Cited by-同舟云学术

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

Published:2016-08 Issue:7 Volume:38 Page:674-677
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Niida Yo^ORCID,Yokoi Ayano,Kuroda Mondo,Mitani Yusuke,Nakagawa Hiroyasu,Ozaki Mamoru

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference9 articles.

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3. NCL diseases – clinical perspectives;Schulz;Biochim Biophys Acta,2013

4. Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria;Santavuori;J Inherit Metab Dis,1993

5. Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR;Vanhanen;AJNR Am J Neuroradiol,1994

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2. Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1;Frontiers in Genetics;2022-08-16

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