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First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

autor

Hazim Kadhim

Catheline Vilain

Julie Désir

opublikowano w: Case reports in pediatrics

data publikacji: 2017-07-10

Cites articles 13

Data

Tytuł

Autorzy

2016-06

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Brett H Graham, Mark S Sands, Robert D. Steiner, Roberto Giugliani
2015-09-24

GYG1 gene mutations in a family with polyglucosan body myopathy

Marco Savarese, Corrado Angelini
2014-01-01

High-resolution magnetic resonance microscopy and diffusion tensor imaging to assess brain structural abnormalities in the murine mucopolysaccharidosis VII model

Harish Poptani
2012-01-01

Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology

Hazim Kadhim
2009-04-01

Lysosomal storage disorders in the newborn
2009-01-01

Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination
2006-01-01

Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

Neil J. Sebire
2002-06-01

Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy
1999-01-01

Hydrops fetalis: lysosomal storage disorders in extremis
1997-03-01

Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications
1996-03-01

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
1993-04-01

Polyglucosan body disease simulating amyotrophic lateral sclerosis.
1993-01-01

Glycogen branching enzyme deficiency in adult polyglucosan body disease

Artykuł - wd:Q41101251

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