Angiokeratoma corporis diffusum in GM1 gangliosidosis, Type 1

Author:

Beratis Nicholas G.,Varvarigou-Frimas Anastasia,Beratis Stavroula,Sklower Susan L.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: cellular studies and carrier detection;Beratis;Pediatr. Res.,1975

2. Fucosidosis: clinical biochemical, im-munologic, and genetic studies in two new cases;Borrone;J. Pediatr.,1974

3. Fabry's disease: enzymatic diagnosis of hem-izygotes and heterozygotes;Desnick;J. Lab. Clin. Med.,1973

4. Genetic heterogeneity in human neuraminidase deficiency;Hoogeven;Nature,1980

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1. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family;Journal of Clinical Medicine;2023-08-31

2. GM1 gangliosidosis: patients with different phenotypic features and novel mutations;Journal of Pediatric Endocrinology and Metabolism;2023-04-13

3. Dermatological Manifestations in Fabry Disease;Amyloidosis and Fabry Disease;2023

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