Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Disorders of Biotin Metabolism

2014 • 237 citations

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

1994 • 131 citations

Multiple Carboxylase Deficiency: Clinical and Biochemical Improvement Following Neonatal Biotin Treatment

1981 • 94 citations

Two forms of biotin‐responsive multiple carboxylase deficiency

1981 • 74 citations

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

1997 • 68 citations

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi1

1997 • 56 citations

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

1998 • 44 citations

Characterization of Mutant Holocarboxylase Synthetase (HCS): AKm for Biotin Was Not Elevated in a Patient with HCS Deficiency

1997 • 36 citations

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate

1996 • 33 citations

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

1999 • 32 citations

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

1995 • 31 citations

Late‐onset holocarboxylase synthetase deficiency

1996 • 20 citations

Biotin‐responsive multiple carboxylase deficiency in an 8‐year‐old boy with normal serum biotinidase and fibroblast holocarboxylase‐synthetase activities

1988 • 17 citations

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

1998 • 12 citations

[41] Purification and properties of bovine and human holocarboxylase synthetases

1997 • 3 citations