Literature DB >> 3294411

Type I Gaucher disease.

J Goldblatt1.   

Abstract

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Year:  1988        PMID： 3294411      PMCID： PMC1050511          DOI： 10.1136/jmg.25.6.415

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


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  9 in total

1.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

2.  Ribonucleic acid synthesis by Escherichia coli C3000/L after infection by the ribonucleic acid coliphage ZIK/1, and properties of coliphage-ZIK/1 ribonucleic acid.

Authors:  D H Bishop
Journal:  Biochem J       Date:  1965-10       Impact factor: 3.857

3.  Gaucher disease: retrovirus-mediated correction of the enzymatic defect in cultured cells.

Authors:  J Sorge; W Kuhl; C West; E Beutler
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

4.  Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.

Authors:  Y Matoth; S Chazan; A Cnaan; I Gelernter; C Klibansky
Journal:  Am J Med Genet       Date:  1987-07

5.  Gaucher disease in the Afrikaner population of South Africa.

Authors:  J Goldblatt; P Beighton
Journal:  S Afr Med J       Date:  1979-02-10

6.  The orthopedic aspects of Gaucher disease.

Authors:  J Goldblatt; S Sacks; P Beighton
Journal:  Clin Orthop Relat Res       Date:  1978 Nov-Dec       Impact factor: 4.176

7.  Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate.

Authors:  G A Grabowski; T Dinur; S Gatt; R J Desnick
Journal:  Clin Chim Acta       Date:  1982-09-01       Impact factor: 3.786

8.  Partial splenectomy in children with Gaucher's disease.

Authors:  J A Bar-Maor; J Govrin-Yehudain
Journal:  Pediatrics       Date:  1985-09       Impact factor: 7.124

9.  Cutaneous manifestations of Gaucher disease.

Authors:  J Goldblatt; P Beighton
Journal:  Br J Dermatol       Date:  1984-09       Impact factor: 9.302
  9 in total
  2 in total

1.  An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.

Authors:  Hailey C Barootes; Chitra Prasad; C Anthony Rupar; Dhandapani Ashok
Journal:  Clin Pediatr (Phila)       Date:  2021-11-18       Impact factor: 1.168

2.  Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Authors:  Gheona Altarescu; Rachel Beeri; Rachel Eiges; Silvina Epsztejn-Litman; Talia Eldar-Geva; Deborah Elstein; Ari Zimran; Ehud J Margalioth; Ephrat Levy-Lahad; Paul Renbaum
Journal:  Mol Biol Int       Date:  2012-12-26
  2 in total

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