Literature DB >> 4854466

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.

C H de Bruyn, T L Oei, B G ter Haar.   

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Year:  1974        PMID： 4854466     DOI： 10.1111/j.1399-0004.1974.tb01718.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.

Authors:  I H Fox; P J Marchant; S LaCroix
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

2.  Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors:  P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

3.  Determination of arylsulfatase C in hair follicles.

Authors:  J C Meyer; H P Grundmann; U W Schnyder
Journal:  Arch Dermatol Res       Date:  1979-08       Impact factor: 3.017

4.  Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates.

Authors:  S Y Lin; D M Niu; M J Li; C P Tu; H L Lin
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

5.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

6.  Protein biosynthesis in cultured human hair follicle cells.

Authors:  P J Weterings; A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1980-10-31       Impact factor: 2.316

Review 7.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

8.  Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Authors:  G Rijksen; G E Staal; M J van der Vlist; F a Beemer; J Troost; W Gutensohn; J P van Laarhoven; C H de Bruyn
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

Authors:  G H Strauss; E F Allen; R J Albertini
Journal:  Biochem Genet       Date:  1980-06       Impact factor: 1.890
  9 in total

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