Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis

Author:

Bharucha B. A.,Naik G.,Savliwala A. S.,Joshi R. M.,Kumta N. B.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. Stanbury J:The inherited basis of metabolic disease. 5th Ed; Mc Grow-Hill Book Company, New York, 1983, p 888

2. Austin JH: Studies in metachromatic leukodystrophy. XLL. Multiple sulfatase deficiency.Arch Neurol 28: 258, 1973

3. Murphy JW, Wolfe HJ, Balasz EA, Moser HW: a patient with deficiency of arylsulfatase A, B, C, and steroid sulfatase associated with storage of sulfatide, cholesterol sulfate and glycosaminogycans. Bernsohn J, Grossman HJ (eds.); Lipid Storage Diseases: Enzymatic Defects and Clinical Implications, New York, 1971. p 67

4. Adams RD, Lyon G:Neurology of hereditary metabolic diseases of children. Hemisphere Publishing Corporation, Washington, New York, London, 1982, p 123.

5. Boyle JA, Seegmiller JE:Methods in enzymology, colowick, S.P. Kaplan, N.O. (eds); Vol XXII, 1971, p 149

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1. Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review;BMC Pediatrics;2023-03-24

2. Where Leukodystrophy and Storage Disorder Meet: A Rare Cause of Neurodegeneration;Annals of Indian Academy of Neurology;2023

3. Leukodystrophies: Indian scenario;The Indian Journal of Pediatrics;2005-04

4. Multiple Sulfatase Deficiency;Magnetic Resonance of Myelination and Myelin Disorders;2005

5. Multiple Sulfatase Deficiency;Magnetic Resonance of Myelin, Myelination, and Myelin Disorders;1995

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