Inborn errors of complex carbohydrate metabolism-Reference-Cited by-同舟云学术

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Inborn errors of complex carbohydrate metabolism

Published:1987-10 Issue:2 Volume:28 Page:489-499
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Spranger J.,Opitz John M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference62 articles.

1. (1981): Infantile neuraminidase and β-galactosidase deficiencies (galactosialidosis) with mild clinical course. In : “Perspectives in Inherited Metabolic Diseases,” Vol 4. Milan: Ermes, pp 379-395.

2. Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

3. N-Acetylneuraminic acid storage disease

4. Neuraminidase deficiency presenting as non-immune hydrops fetalis

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

2. Skeletal Dysplasias;Caffey's Pediatric Diagnostic Imaging;2008

3. S;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. M;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Skeletal Dysplasia Syndromes;Gamut Index of Skeletal Dysplasias;2001

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