Literature DB >> 5695665

Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.

O Thalhammer, R Gitzelmann, M Pantlitschko.   

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Year:  1968        PMID: 5695665

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


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  9 in total

1.  Genetic study of Welsh gypsies.

Authors:  E M Williams; P R Harper
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

2.  Galactokinase deficiency in a newborn infant.

Authors:  M M Kerr; R W Logan; J S Cant; J H Hutchison
Journal:  Arch Dis Child       Date:  1971-12       Impact factor: 3.791

3.  Hereditary galactokinase deficiency.

Authors:  J G Cook; N A Don; T P Mann
Journal:  Arch Dis Child       Date:  1971-08       Impact factor: 3.791

4.  [Galactokinase defect in a newborn infant].

Authors:  F Linneweh; E Schaumlöffel; M Vetrella
Journal:  Klin Wochenschr       Date:  1970-01-01

Review 5.  Clinical features of galactokinase deficiency: a review of the literature.

Authors:  A M Bosch; H D Bakker; A H van Gennip; J V van Kempen; R J A Wanders; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

Review 6.  Cataract and metabolic disease.

Authors:  W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Authors:  L Kalaydjieva; A Perez-Lezaun; D Angelicheva; S Onengut; D Dye; N U Bosshard; A Jordanova; A Savov; P Yanakiev; I Kremensky; B Radeva; J Hallmayer; A Markov; V Nedkova; I Tournev; L Aneva; R Gitzelmann
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

8.  Genetic studies of the Roma (Gypsies): a review.

Authors:  L Kalaydjieva; D Gresham; F Calafell
Journal:  BMC Med Genet       Date:  2001-04-02       Impact factor: 2.103

9.  Galactokinase deficiency: lessons from the GalNet registry.

Authors:  M Estela Rubio-Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Möslinger; M Luz Couce; Aurélie Empain; Can Ficicioglu; Natalia Juliá Palacios; Mariela M De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl-Bürgi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; Saskia B Wortmann; Eileen P Treacy; David J Timson; Gerard T Berry
Journal:  Genet Med       Date:  2020-08-18       Impact factor: 8.822

  9 in total

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