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A prevalent mutation for galactosemia among black Americans

The Journal of pediatrics, 1996, Vol.128 (1), p.89-95

1996

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A common mutation associated with the duarte galactosemia allele

American journal of human genetics, 1994-06, Vol.54 (6), p.1030-1036

1994

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Molecular basis for Duarte and Los Angeles variant galactosemia

American journal of human genetics, 1997-02, Vol.60 (2), p.366-372

1997

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

American journal of human genetics, 1995-03, Vol.56 (3), p.630-639

1995

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Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid

Prenatal diagnosis, 1998-06, Vol.18 (6), p.545-555

1998

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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

Genetics in medicine, 1998-11, Vol.1 (1), p.34-39

1998

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The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

Human mutation, 1998, Vol.11 (1), p.28-38

1998

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Urinary Pyridinium Cross-Links: A Noninvasive Diagnostic Test for Ehlers-Danlos Syndrome Type VI

The New England journal of medicine, 1994-07, Vol.331 (2), p.132-133

1994

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Cystathionine-β-synthase deficiency : Detection of heterozygotes by the ratios of homocysteine to cysteine and folate

Metabolism, clinical and experimental, 1998-02, Vol.47 (2), p.207-211

1998

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A molecular approach to galactosemia

European journal of pediatrics, 1995-01, Vol.154 (7 Suppl 2), p.S21-S27

1995

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Pyridinium cross-links in heritable disorders of collagen

American journal of human genetics, 1995-12, Vol.57 (6), p.1508-1510

1995

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Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

American journal of human genetics, 1995-03, Vol.56 (3), p.640-646

1995

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Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria: a model for the study of phenylalanine and brain function in man

The Journal of clinical investigation, 1985, Vol.75 (1), p.40-48

1985

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Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI

Proceedings of the Association of American Physicians, 1997-01, Vol.109 (1), p.33-41

1997

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Thiamine response in maple syrup urine disease

Pediatric research, 1985-10, Vol.19 (10), p.1011-1016

1985

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Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI

Metabolism, clinical and experimental, 1987-07, Vol.36 (7), p.687-691

1987

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Selective urinary screening for mucopolysaccharidoses

Clinical biochemistry, 1990-02, Vol.23 (1), p.91-96

1990

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Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI

American journal of human genetics, 1984-07, Vol.36 (4), p.783-790

1984

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A [ 3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase

Biochimica et biophysica acta, 1985-06, Vol.840 (2), p.143-152

1985

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Clinical and biochemical analysis of two families with type I and type II mannosidosis

American journal of medical genetics, 1995-01, Vol.55 (1), p.21-26

1995

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Autonomous Synthesis of α and β Hemoglobin Chains in Rabbit Erythroid Cells

Blood, 1981-06, Vol.57 (6), p.1125-1131

1981

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Biochemical discrimination of heterozygotes for cystathionine β-synthase (CβS) deficiency

Genetics in medicine, 1999-01, Vol.1 (2), p.43

1999

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Autonomous synthesis of alpha and beta hemoglobin chains in rabbit erythroid cells

Blood, 1981-06, Vol.57 (6), p.1125-1131

1981

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Coordinated system for comprehensive newborn metabolic screening

Southern medical journal (Birmingham, Ala.), 1982-05, Vol.75 (5), p.529-532

1982

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Interaction between the Synthesis of α and β Globin

European journal of biochemistry, 1975-10, Vol.58 (2), p.339-350

1975

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A prevalent mutation for galactosemia among black Americans

A common mutation associated with the duarte galactosemia allele

Molecular basis for Duarte and Los Angeles variant galactosemia

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

Urinary Pyridinium Cross-Links: A Noninvasive Diagnostic Test for Ehlers-Danlos Syndrome Type VI

Cystathionine-β-synthase deficiency : Detection of heterozygotes by the ratios of homocysteine to cysteine and folate

A molecular approach to galactosemia

Pyridinium cross-links in heritable disorders of collagen

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria: a model for the study of phenylalanine and brain function in man

Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI

Thiamine response in maple syrup urine disease

Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI

Selective urinary screening for mucopolysaccharidoses

Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI

A [ 3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase

Clinical and biochemical analysis of two families with type I and type II mannosidosis

Autonomous Synthesis of α and β Hemoglobin Chains in Rabbit Erythroid Cells

Biochemical discrimination of heterozygotes for cystathionine β-synthase (CβS) deficiency

Autonomous synthesis of alpha and beta hemoglobin chains in rabbit erythroid cells

Coordinated system for comprehensive newborn metabolic screening

Interaction between the Synthesis of α and β Globin

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