Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein-Reference-Cited by-同舟云学术

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Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein

Published:1992-06 Issue:3 Volume:47 Page:211-220
ISSN:0885-4505
Container-title:Biochemical Medicine and Metabolic Biology
language:en
Short-container-title:Biochemical Medicine and Metabolic Biology

Author:

Brooks D.A.,Harper G.S.,Gibson G.J.,Ashton L.J.,Taylor J.A.,McCouri P.A.G.,Freeman C.,Clements P.R.,Hoffmann J.W.,Hopwood J.J.

Publisher

Elsevier BV

Subject

Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. The mucopolysaccharidoses;Neufeld,1989

2. The mucopolysaccharidoses: Biochemistry and clinical symptoms;Kresse;Klin Wochenschr.,1981

3. The mucopolysaccharide storage diseases;McKusick,1983

4. Partial enzyme deficiencies: Residual activities and the development of neurologic disorders;Conzelmann;Dev Neurosci,1984

5. Biochemical discrimination of Hurler and Scheie syndromes;Hopwood;Clin Sci,1979

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1. Immunochemistry of Lysosomal Storage Disorders;Clinical Chemistry;2006-09-01

2. Synthesis of Glycaro-1,5-lactams and Tetrahydrotetrazolopyridine-5-carboxylates: Inhibitors ofβ-D-Glucuronidase andα-L-Iduronidase;Helvetica Chimica Acta;2006-04

3. Synthesis of d-gluco-, l-ido-, d-galacto-, and l-altro-configured glycaro-1,5-lactams from tartaric acid;Tetrahedron Letters;2005-05

4. The α-l-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2003-10

5. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients;Molecular Genetics and Metabolism;2003-01

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