Literature DB >> 4268390

Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.

M Crawfurd, M F Dean, D M Hunt, D R Johnson, R R MacDonald, H Muir, E A Wright, C R Wright.   

Abstract

Entities:  

Keywords:  Amniocentesis; Biology; Case Studies; Congenital Abnormalities--complications; Demographic Factors; Diseases; Enzymatic Effects; Enzymes And Enzyme Inhibitors; Examinations And Diagnoses; Fetal Death; Genetic Technics; Genetics; Hereditary Diseases; Laboratory Examinations And Diagnoses; Mortality; Neonatal Diseases And Abnormalities; Physiology; Population; Population Dynamics; Pregnancy Complications--etiology; Research Methodology; Studies

Mesh：

Substances：

Year:  1973        PMID： 4268390      PMCID： PMC1013005          DOI： 10.1136/jmg.10.2.144

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


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  22 in total

1.  The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

Authors:  F Van Hoof; H G Hers
Journal:  Eur J Biochem       Date:  1968-12

2.  Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.

Authors:  J G Leroy; A C Crocker
Journal:  Am J Dis Child       Date:  1966-12

3.  Structural studies on heparitin sulfate of normal and Hurler tissues.

Authors:  J Knecht; J A Cifonelli; A Dorfman
Journal:  J Biol Chem       Date:  1967-10-25       Impact factor: 5.157

4.  Hepatic ultrastructure in the Hurler syndrome.

Authors:  W P Callahan; A E Lorincz
Journal:  Am J Pathol       Date:  1966-02       Impact factor: 4.307

5.  Prenatal diagnosis of Tay-Sachs disease.

Authors:  L Schneck; C Valenti; D Amsterdam; J Friedland; M Adachi; B W Volk
Journal:  Lancet       Date:  1970-03-21       Impact factor: 79.321

6.  Beta-galactosidase deficiency in the hurler syndrome.

Authors:  M MacBrinn; S Okada; M Woollacott; V Patel; M W Ho; A L Tappel; J S O'Brien
Journal:  N Engl J Med       Date:  1969-08-14       Impact factor: 91.245

7.  Intrauterine diagnosis of the hurler and hunter syndromes.

Authors:  J C Fratantoni; E F Neufeld; B W Uhlendorf; C B Jacobson
Journal:  N Engl J Med       Date:  1969-03-27       Impact factor: 91.245

8.  A chemical method for the antenatal diagnosis of mucopolysaccharidoses.

Authors:  R Matalon; A Dorfman; H L Nadler; C B Jacobson
Journal:  Lancet       Date:  1970-01-10       Impact factor: 79.321

9.  Fractionation of j-methylumbelliferyl-beta-galactosidase activities in liver in gargoylism.

Authors:  P A Ockerman; B Hultberg
Journal:  Scand J Clin Lab Invest       Date:  1968       Impact factor: 1.713

10.  Chondroitin sulfate proteolycan of human leukocytes.

Authors:  I Olsson
Journal:  Biochim Biophys Acta       Date:  1969-04-01
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  8 in total

1.  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

2.  Prenatal diagnosis and genetic counselling.

Authors:  D J Brock
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

Authors:  J A Lowden; N Rudd; E Cutz; T A Doran
Journal:  Can Med Assoc J       Date:  1975-09-20       Impact factor: 8.262

4.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

5.  Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantation.

Authors:  J Crow; D A Gibbs; W Cozens; E Spellacy; R W Watts
Journal:  J Clin Pathol       Date:  1983-04       Impact factor: 3.411

6.  Lipid composition of whole brain and cerebellum in Hurler syndrome (MPS IH) mice.

Authors:  Karie A Heinecke; Brandon N Peacock; Bruce R Blazar; Jakub Tolar; Thomas N Seyfried
Journal:  Neurochem Res       Date:  2011-01-21       Impact factor: 4.414

7.  In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.

Authors:  Sourav K Bose; Brandon M White; Meghana V Kashyap; Apeksha Dave; Felix R De Bie; Haiying Li; Kshitiz Singh; Pallavi Menon; Tiankun Wang; Shiva Teerdhala; Vishal Swaminathan; Heather A Hartman; Sowmya Jayachandran; Prashant Chandrasekaran; Kiran Musunuru; Rajan Jain; David B Frank; Philip Zoltick; William H Peranteau
Journal:  Nat Commun       Date:  2021-07-13       Impact factor: 14.919

Review 8.  Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.

Authors:  Christiane S Hampe; Julie B Eisengart; Troy C Lund; Paul J Orchard; Monika Swietlicka; Jacob Wesley; R Scott McIvor
Journal:  Cells       Date:  2020-08-05       Impact factor: 6.600
  8 in total

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