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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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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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Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

The Journal of clinical investigation, 1985-03, Vol.75 (3), p.858-860

1985

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Acceptance of amniocentesis by low-income patients in an urban hospital

American journal of obstetrics and gynecology, 1980-09, Vol.138 (1), p.11-15

1980

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Activation of Glucose Transport by a Natural Mutation in the Human Insulin Receptor

Proceedings of the National Academy of Sciences - PNAS, 1993-01, Vol.90 (1), p.60-64

1993

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Activation of insulin receptor signaling by a single amino acid substitution in the transmembrane domain

The Journal of biological chemistry, 1992-06, Vol.267 (18), p.12416-12419

1992

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Amino acid transport by aggregates of cultured chicken heart cells: Effect of insulin

The Journal of biological chemistry, 1975-12, Vol.250 (24), p.9381-9390

1975

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[14] Antibodies against branched-chain α-keto acid dehydrogenase proteins for use in defining human mutations and gene isolation

Methods in Enzymology, 1988, Vol.166, p.108-114

1988

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Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease

American journal of medical genetics, 1980, Vol.6 (4), p.315-329

1980

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ARHI: A new target of galactose toxicity in Classic Galactosemia

Bioscience hypotheses, 2008, Vol.1 (5), p.263-271

2008

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Ascorbate Action on Normal and Mutant Human Lysyl Hydroxylases from Cultured Dermal Fibroblasts

Journal of investigative dermatology, 1979-05, Vol.72 (5), p.241-247

1979

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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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Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study

American journal of human genetics, 1991-03, Vol.48 (3), p.468-480

1991

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Autosomal recessive inheritance of renal glycosuria

Metabolism, clinical and experimental, 1971-10, Vol.20 (10), p.968-975

1971

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The Biochemical Role of Glutamine 188 in Human Galactose-1-phosphate Uridyltransferase

The Journal of biological chemistry, 1999-03, Vol.274 (10), p.6559-6566

1999

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Black children deficient in galactose 1-phosphate uridyltransferase: Correlation of activity and immunoreactive protein in erythrocytes and leukocytes

The Journal of pediatrics, 1997-06, Vol.130 (6), p.972-980

1997

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Campomelic syndrome and deletion of SOX9

American journal of medical genetics, 1999-05, Vol.84 (1), p.20-24

1999

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Cancer genetics in primary care: When is genetic screening an option and when is it the standard of care?

Postgraduate medicine, 2000-04, Vol.107 (4), p.191-208

2000

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Cessation of enzyme replacement therapy in Gaucher disease

Genetics in medicine, 2002-11, Vol.4 (6), p.427-433

2002

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Characterization and regulation of insulin binding by embryonic chick heart cells

Developmental biology, 1981-01, Vol.84 (2), p.417-424

1981

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Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase

Molecular genetics and metabolism, 2002-08, Vol.76 (4), p.287-296

2002

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CHOLECYSTOCOLONIC FISTULA WITH MALABSORPTION

Annals of internal medicine, 1965-09, Vol.63, p.481

1965

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Classic phenylketonuria: Diagnosis through heterozygote detection

The Journal of pediatrics, 1975-04, Vol.86 (4), p.512-517

1975

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Classic phenylketonuria: heterozygote detection during pregnancy

American journal of human genetics, 1973-11, Vol.25 (6), p.646-654

1973

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Human mutation, 1999, Vol.13 (6), p.417-430

1999

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

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

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

Acceptance of amniocentesis by low-income patients in an urban hospital

Activation of Glucose Transport by a Natural Mutation in the Human Insulin Receptor

Activation of insulin receptor signaling by a single amino acid substitution in the transmembrane domain

Amino acid transport by aggregates of cultured chicken heart cells: Effect of insulin

[14] Antibodies against branched-chain α-keto acid dehydrogenase proteins for use in defining human mutations and gene isolation

Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease

ARHI: A new target of galactose toxicity in Classic Galactosemia

Ascorbate Action on Normal and Mutant Human Lysyl Hydroxylases from Cultured Dermal Fibroblasts

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

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study

Autosomal recessive inheritance of renal glycosuria

The Biochemical Role of Glutamine 188 in Human Galactose-1-phosphate Uridyltransferase

Black children deficient in galactose 1-phosphate uridyltransferase: Correlation of activity and immunoreactive protein in erythrocytes and leukocytes

Campomelic syndrome and deletion of SOX9

Cancer genetics in primary care: When is genetic screening an option and when is it the standard of care?

Cessation of enzyme replacement therapy in Gaucher disease

Characterization and regulation of insulin binding by embryonic chick heart cells

Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase

CHOLECYSTOCOLONIC FISTULA WITH MALABSORPTION

Classic phenylketonuria: Diagnosis through heterozygote detection

Classic phenylketonuria: heterozygote detection during pregnancy

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

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