Biotin-responsive multiple carboxylase deficiency of infantile onset
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Biotin-responsive β-methylcrotonylglycinuria;Gompertz;Lancet,1971
2. Holocarboxylase synthetase deficiency: A biotin-responsive organic aciduria;Roth;J Pediatr,1980
3. The neonatal form of biotin-responsive multiple carboxylase deficiency;Packman;J Pediatr,1981
4. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity;Cowan;Lancet,1979
5. Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin;Thoene;N Engl J Med,1981
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1. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review;Pediatric Radiology;2016-01-11
2. Aminoacidemias and Organic Acidemias;Swaiman's Pediatric Neurology;2012
3. Metabolic Disorders;Developmental Medicine & Child Neurology;2008-11-12
4. Dermatologic Signs of Biotin Deficiency Leading to the Diagnosis of Multiple Carboxylase Deficiency;Pediatric Dermatology;2004-05
5. Holocarboxylase Synthetase Deficiency: A Treatable Metabolic Disorder Masquerading as Cerebral Palsy;Journal of Child Neurology;1994-04
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