Literature DB >> 132532

The mucopolysaccharidoses.

C A Pennock, I C Barnes.   

Abstract

Mesh：

Substances：

Year:  1976        PMID： 132532      PMCID： PMC1013390          DOI： 10.1136/jmg.13.3.169

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  122 in total

1.  A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts.

Authors:  S Hickman; L J Shapiro; E F Neufeld
Journal:  Biochem Biophys Res Commun       Date:  1974-03-15       Impact factor: 3.575

2.  Sanfilippo A disease in the fetus.

Authors:  P S Harper; K M Laurence; A Parkes; F S Wusteman; H Kresse; K von Figura; M A Ferguson-Smith; D M Duncan; R W Logan; F Hall; P Whiteman
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

3.  Studies on the heparin sulphamidase activity from rat spleen. Intracellular distribution and characterization of the enzyme.

Authors:  Y Friedman; C Arsenis
Journal:  Biochem J       Date:  1974-06       Impact factor: 3.857

4.  Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture.

Authors:  B S Danes; A G Bearn
Journal:  Science       Date:  1965-08-27       Impact factor: 47.728

5.  Hepatic uptake of proteins coupled to fetuin glycopeptide.

Authors:  J C Rogers; S Kornfeld
Journal:  Biochem Biophys Res Commun       Date:  1971-11-05       Impact factor: 3.575

6.  Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.

Authors:  G H Thomas
Journal:  J Lab Clin Med       Date:  1969-11

7.  Identification of iduronic acid as the major sulfated uronic acid of heparin.

Authors:  U Lindahl; O Axelsson
Journal:  J Biol Chem       Date:  1971-01-10       Impact factor: 5.157

8.  Structure of pig skin dermatan sulfate. 2. Demonstration of sulfated iduronic acid residues.

Authors:  A Malmström; L A Fransson
Journal:  Eur J Biochem       Date:  1971-02-01

9.  The Hunter corrective factor. Purification and preliminary characterization.

Authors:  M Cantz; A Chrambach; G Bach; E F Neufeld
Journal:  J Biol Chem       Date:  1972-09-10       Impact factor: 5.157

10.  Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion.

Authors:  N Di Ferrante; B L Nichols; P V Donnelly; G Neri; R Hrgovcic; R K Berglund
Journal:  Proc Natl Acad Sci U S A       Date:  1971-02       Impact factor: 11.205
View more
  5 in total

1.  Ultrastructure of myocardium in the Hurler syndrome. Possible relation to cardiac function.

Authors:  D G Perkins; M D Haust
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1982

Review 2.  Newborn screening and diagnosis of mucopolysaccharidoses.

Authors:  Shunji Tomatsu; Tadashi Fujii; Masaru Fukushi; Toshihiro Oguma; Tsutomu Shimada; Miho Maeda; Kazuhiro Kida; Yuniko Shibata; Hideyuki Futatsumori; Adriana M Montaño; Robert W Mason; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-21       Impact factor: 4.797

Review 3.  Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Authors:  C J Hendriksz; P Harmatz; M Beck; S Jones; T Wood; R Lachman; C G Gravance; T Orii; S Tomatsu
Journal:  Mol Genet Metab       Date:  2013-04-10       Impact factor: 4.797

4.  Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.

Authors:  A C Sewell
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183

Review 5.  Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.

Authors:  Rajendra Singh; Shaileja Chopra; Carrie Graham; Melissa Langer; Rainer Ng; Anirudh J Ullal; Vamsee K Pamula
Journal:  Diagnostics (Basel)       Date:  2020-05-11
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.