Organic aciduria in neonatal multiple carboxylase deficiency (original) (raw)
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay
R. Wevers
Clinical Dysmorphology, 2008
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Holocarboxylase synthetase deficiency: A biotin-responsive organic acidemia
John Foreman
The Journal of Pediatrics, 1980
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Pyruvate carboxylase deficiencies: Complementation studies between “French” and “American” phenotypes in cultured fibroblasts
C. Augereau
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Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency
C. Griscelli
Journal of Clinical Immunology, 1982
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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy
David Valle
The American Journal of Human Genetics, 2004
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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
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Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
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Subhashinee Wijeratne
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The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
Olga Criado, Lourdes Desviat
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Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficiency patient
Victoria Castillo
Journal of Inherited Metabolic Disease, 1986
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Urinary Excretion of 3-Hydroxyisovaleric Acid and 3-Hydroxyisovaleryl Carnitine Increases in Response to a Leucine Challenge in Marginally Biotin-Deficient Humans
Horace Spencer
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Biotin dependency due to a defect in biotin transport
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Early infantile presentation of 3-methylcrotonyl CoA carboxylase deficiency: a case report
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Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency
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Biotinidase deficiency
ramdas dahiphale
Indian pediatrics, 2008
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Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
B. Lemieux
1989
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Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally
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Journal of Inherited Metabolic Disease, 1984
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Mechanism of Biotin Responsiveness in Biotin-Responsive Multiple Carboxylase Deficiency
Eric Campeau
Molecular Genetics and Metabolism, 1999
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Differential Effects of Biotin Deficiency and Replenishment on Rat Liver Pyruvate and Propionyl-CoA Carboxylases and on Their mRNAs
Martha Andrade
Molecular Genetics and Metabolism, 1999
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The Molecular Basis of Human 3-Methylcrotonyl-CoA Carboxylase Deficiency
David Valle
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Differential Effects of Biotin Deficiency and Replenishment on Rat Liver Pyruvate and Propionyl-CoA Carboxylases and on Their MRNAs* 1
martha andrade
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Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency
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Kinetic Characterization of Mutations Found in Propionic Acidemia and Methylcrotonylglycinuria: EVIDENCE FOR COOPERATIVITY IN BIOTIN CARBOXYLASE
Grover Waldrop
Journal of Biological Chemistry, 2004
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Molecular mechanism of dominant expression in 3‐methylcrotonyl‐CoA carboxylase deficiency
Matthias Baumgartner
Journal of Inherited Metabolic Disease, 2005
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