Clinico-pathological report: A 7-year old white-male boy with progressive neurological deterioration-Reference-Cited by-同舟云学术

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Clinico-pathological report: A 7-year old white-male boy with progressive neurological deterioration

Published:1991-09-01 Issue:3 Volume:40 Page:271-279
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barness Lewis A.,Henry Keith,Kling Pamela,Laxova Renata,Kaback Michael,Gilbert-Barness Enid

Publisher

Wiley

Subject

Genetics (clinical)

Reference19 articles.

1. Ganglioside storage, hexosarninidase lability, and urinary oligosaccharides in adult Sandhoff's disease

2. Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells.

3. Generalized dystonia, whispering dysphonia and Wilson's disease in members of the same family.

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1. GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations;Cukurova Medical Journal;2021-09-30

2. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations;Orphanet Journal of Rare Diseases;2018-08-03

3. An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis;The Journal of Pediatric Research;2018-06-21

4. Pediatric Metabolic Diseases;Forensic Pathology of Infancy and Childhood;2014

5. GM2 Gangliosidosis;Magnetic Resonance of Myelination and Myelin Disorders;2005

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