Sulfamidase Deficiency in a Family of Dachshunds: A Canine Model of Mucopolysaccharidosis IIIA (Sanfilippo A)
- 1 July 1998
- journal article
- case report
- Published by Springer Nature in Pediatric Research
- Vol. 44 (1) , 74-82
- https://doi.org/10.1203/00006450-199807000-00012
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 54 references indexed in Scilit:
- Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findingsPediatric Radiology, 1993
- Long‐term outcome of Hurler syndrome following bone marrow transplantationAmerican Journal of Medical Genetics, 1993
- N‐acetylglucosamine 6‐sulphatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)Journal of Inherited Metabolic Disease, 1992
- Carrier detection for sanfilippo A syndromeJournal of Inherited Metabolic Disease, 1986
- Sanfilippo Disease, Type A with some Features of Ceroid LipofuscinosisNeuropediatrics, 1985
- Two cases of mucopolysaccharidosis type III (Sanfilippo)Acta Neuropathologica, 1979
- A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.Journal of Clinical Pathology, 1976
- Diagnosis of genetic mucopolysaccharidoses: Electrophoretic and enzymatic characterization of urinary glycosaminoglycansBiochemical Medicine, 1975
- Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVERJournal of Clinical Investigation, 1974
- Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)The Journal of Pediatrics, 1963