Literature DB >> 6784721

Spondyloepiphyseal dysplasia, chondroitin sulfate type: a possible defect of PAPS--chondroitin sulfate sulfotransferase in humans.

P A Mourão, S Kato, P V Donnelly.   

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Year:  1981        PMID： 6784721     DOI： 10.1016/0006-291x(81)90852-4

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  8 in total

1.  A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.

Authors:  E Quentin; A Gladen; L Rodén; H Kresse
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

2.  Isolation and characterization from porcine serum of a soluble sulfotransferase responsible for 6-O-sulfation of the galactose residue in 2'-fucosyllactose: implications in the synthesis of the ligand for L-selectin.

Authors:  Q K Huynh; K Shailubhai; H Boddupalli; H H Yu; K O Broschat; G S Jacob
Journal:  Glycoconj J       Date:  1999-07       Impact factor: 2.916

3.  Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

Authors:  H Kresse; S Rosthøj; E Quentin; J Hollmann; J Glössl; S Okada; T Tønnesen
Journal:  Am J Hum Genet       Date:  1987-09       Impact factor: 11.025

Review 4.  Proteoglycans in health and disease: structures and functions.

Authors:  A R Poole
Journal:  Biochem J       Date:  1986-05-15       Impact factor: 3.857

5.  A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.

Authors:  A Superti-Furga
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

6.  Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease).

Authors:  L Toma; W Pinto; V C Rodrigues; C P Dietrich; H B Nader
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  Ocular-chondrodysplasia in labrador retriever dogs: a morphometric and electron microscopical analysis.

Authors:  C E Farnum; K Jones; R Riis; N J Wilsman
Journal:  Calcif Tissue Int       Date:  1992-06       Impact factor: 4.333

Review 8.  Skeletal Dysplasias Caused by Sulfation Defects.

Authors:  Chiara Paganini; Chiara Gramegna Tota; Andrea Superti-Furga; Antonio Rossi
Journal:  Int J Mol Sci       Date:  2020-04-14       Impact factor: 5.923
  8 in total

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