Literature DB >> 4366481

Sanfilippo A disease in the fetus.

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.   

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Year:  1974        PMID： 4366481      PMCID： PMC1013106          DOI： 10.1136/jmg.11.2.123

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


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  21 in total

1.  The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

2.  Prenatal diagnosis of mucopolysaccharidoses.

Authors:  P Whiteman
Journal:  Lancet       Date:  1973-06-02       Impact factor: 79.321

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

Authors:  R Matalon; A Dorfman; H L Nadler
Journal:  Lancet       Date:  1972-04-08       Impact factor: 79.321

4.  The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

Authors:  K von Figura; H Kresse
Journal:  Biochem Biophys Res Commun       Date:  1972-07-25       Impact factor: 3.575

5.  The Sanfilippo A corrective factor. Purification and mode of action.

Authors:  H Kresse; E F Neufeld
Journal:  J Biol Chem       Date:  1972-04-10       Impact factor: 5.157

6.  Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors.

Authors:  H Kresse; U Wiesmann; M Cantz; C W Hall; E F Neufeld
Journal:  Biochem Biophys Res Commun       Date:  1971-03-05       Impact factor: 3.575

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.  Preparation of 2-acetamido-2-deoxy-alpha-glycopyranosides.

Authors:  B Weissmann
Journal:  J Org Chem       Date:  1966-08       Impact factor: 4.354

10.  Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Authors:  J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1972-07       Impact factor: 11.205
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  6 in total

1.  Letter: Antenatal diagnosis of the mucopolysaccharidoses.

Authors:  R W Logan
Journal:  Br Med J       Date:  1976-03-20

2.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

3.  Two cases of mucopolysaccharidosis type III (Sanfilippo). An anatomopathological study.

Authors:  J J Martin; C Ceuterick; G Van Dessel; A Lagrou; W Dierick
Journal:  Acta Neuropathol       Date:  1979-05-15       Impact factor: 17.088

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.  Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations.

Authors:  Margaret Z Jones; Joseph Alroy; Erinn Downs-Kelly; Rebecca E Lucas; Stacey A Kraemer; Kevin T Cavanagh; Barbara King; John J Hopwood
Journal:  J Mol Neurosci       Date:  2004       Impact factor: 3.444

6.  Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.

Authors:  A Cooper; C Hatton; M Thornley; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  6 in total

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