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Le Phuc Thuy

University of California, San Diego

19

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281

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Management of a patient with holocarboxylase synthetase deficiency

2008 Molecular Genetics and Metabolism
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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

2001 Human Molecular Genetics
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Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

1999 Prenatal Diagnosis
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Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.

1999 Clinica Chimica Acta
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Deficiency of Biotinyl-AMP Synthetase Activity in Fibroblasts of Patients with Holocarboxylase Synthetase Deficiency

1998 Molecular Genetics and Metabolism
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Partial Methylcrotonyl-Coenzyme A Carboxylase Deficiency in an Infant With Failure to Thrive, Gastrointestinal Dysfunction, and Hypertonia

1993 Pediatrics
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A new quantitative assay for glycosaminoglycans.

1992 Clinica Chimica Acta
- Le Phuc Thuy
- William L. Nyhan
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A screening method for cystine and homocystine in urine.

1992 Clinica Chimica Acta
- Le Phuc Thuy
- William L. Nyhan
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Deficiency of Carnitine Palmitoyltransferase I

1989 Journal of Child Neurology
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Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.

1986 The Lancet
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Citations (25)