BIOTINIDASE DEFICIENCY ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference6 articles.
1. Multiple carboxylase deficiency;Nyhan;J Biochem,1988
2. Phenotypic variation in biotinidase deficiency;Wolf;J Pediatr,1983
3. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity;Cowan;Lancet,1979
4. Immunodeficiency syndromes associated with inherited metabolic disorders;Cowan;Clin Haematol,1981
5. Biotinidase deficiency a survey of 10 cases;Wastell;Arch Dis Child,1988
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1. An arrayed CRISPR screen of primary B cells reveals the essential elements of the antibody secretion pathway;Frontiers in Immunology;2023-02-13
2. Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency;Molecular Genetics and Metabolism;2014-05
3. Multiple carboxylase deficiency/biotinidase deficiency;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
4. The neurology of biotinidase deficiency;Molecular Genetics and Metabolism;2011-09
5. Infectious complications of propionic acidemia in Saudia Arabia;Clinical Genetics;2008-04-23
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