Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship-Reference-Cited by-同舟云学术

Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship

Published:1966-04 Issue:4 Volume:68 Page:551-558
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Baker Lester,Mellman William J.,Tedesco Thomas A.,Segal Stanton

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Galactosemia with cataracts. Report of a case, with notes on physiopathology;Ritter;New England J. Med.,1955

2. Formes tardives attenuées de galactosémie chez deux frères. Interpretation clinique et classement génétique de maladie;Durand;Arch. franç. pédiat.,1955

3. The genetic mechanism of galactosemia;Hugh-Jones;Arch. Dis. Childhood,1960

4. Variability in the clinical manifestations of galactosemia;Hsia;J. Pediat.,1961

5. The metabolism of galactose by patients with congenital galactosemia;Segal;Am. J. Med.,1965

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1. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c. 404C > T) variant of GALT ;Journal of Inherited Metabolic Disease;2022-09-26

2. Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia;Data in Brief;2015-06

3. Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease;Molecular Genetics and Metabolism Reports;2015-03

4. Galactosemia: When is it a newborn screening emergency?;Molecular Genetics and Metabolism;2012-05

5. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa;BMC Pediatrics;2002-09-02