Early disease progression of Hurler syndrome

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Early disease progression of Hurler syndrome

BACKGROUND Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the att...

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Hurler syndrome (Mucopolysaccharidosis type I).

To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...

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Hurler syndrome with a tuft of hair.

A 2-year-old girl presented with coarse, thick hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal deformities. Mucopolysaccharides excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnos...

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Rab11 in Disease Progression

Membrane/ protein trafficking in the secretory/ biosynthetic and endocytic pathways is mediated by vesicles. Vesicle trafficking in eukaryotes is regulated by a class of small monomeric GTPases the Rab protein family. Rab proteins represent the largest branch of the Ras superfamily GTPases, and have been concerned in a variety of intracellular vesicle trafficking and different intracellular sig...

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Hurler/Scheie syndrome in Chinese families

The complementary and genomic DNA segments of the a-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IHIS) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has MII (G to A transition in the initiation codon ATG) and the paternal al...

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2017

ISSN: 1750-1172

DOI: 10.1186/s13023-017-0583-7