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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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A rapid procedure for extracting genomic DNA from leukocytes

Nucleic acids research, 1991-01, Vol.19 (2), p.408-408

1991

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Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice

Bone (New York, N.Y.), 2004, Vol.34 (1), p.134-139

2004

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Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

The Journal of pediatrics, 1996-09, Vol.129 (3), p.445-448

1996

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Laboratory Guide to the Methods in Biochemical Genetics

1. Aufl., 2008

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CpG methylation accounts for a recurrent mutation (c.1222C>T) in the humanPAH gene

Human mutation, 2006-09, Vol.27 (9), p.975-975

2006

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CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene

Human mutation, 2006-09, Vol.27 (9), p.975-975

2006

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Structural And Biochemical Characterization of the Therapeutic A. Variabilis Phenylalanine Ammonia Lyase

Journal of molecular biology, 2009-05, Vol.380 (4)

2009

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Guidelines and recommendations for content, structure, and deployment of mutation databases

Human mutation, 1999, Vol.13 (5), p.344-350

1999

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Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes

Molecular genetics and metabolism, 1998-06, Vol.64 (2), p.119-125

1998

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Vitamin D Resistant Rickets — Pathophysiology of the Various Syndromes

Vitamin D - Biochemical, Chemical and Clinical Aspects Related to Calcium Metabolism, 2020, p.771-780

2020

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A Pst^+ Polymorphism in the HEXA Gene with an Unusual Geographie Distribution

European journal of human genetics : EJHG, 1993-04, Vol.1 (4), p.301-305

1993

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Defective Biopterin Biosynthesis in a Chinese Infant

Montreal, Canada, June 15–20, 1986, 2019, Vol.8, p.403-406

2019

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Mutation profiles of phenylketonuria in Quebec populations : evidence of stratification and novel mutations

American journal of human genetics, 1994-08, Vol.55 (2), p.321-326

1994

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Nutrient-gene interactions: the gene is not the disease and vice versa

The American journal of clinical nutrition, 1988-12, Vol.48 (6), p.1505-1509

Scriver, CR

1988

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Methylmalonic acidemia with a severe chemical but benign clinical phenotype

The Journal of pediatrics, 1993-03, Vol.122 (3), p.428-429

1993

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Carrier screening for Tay-Sachs disease

The Lancet (British edition), 1990-07, Vol.336 (8708), p.191-191

1990

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Outcome of early and long-term management of classical maple syrup urine disease

Pediatrics (Evanston), 1981-12, Vol.68 (6), p.856-862

1981

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Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency

The American journal of clinical nutrition, 1976-11, Vol.29 (11), p.1315-1329

1976

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Properties of gamma-aminobutyric acid synthesis by rat renal cortex

Biochimica et biophysica acta, 1982-06, Vol.716 (3), p.348-357

1982

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Age-dependent serum sulfate levels in children and adolescents

Clinica chimica acta, 1980-01, Vol.107 (1), p.135-139

1980

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A microassay for analysis of serum sulfate

Analytical biochemistry, 1979-12, Vol.100 (2), p.339-342

1979

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A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

The Lancet (British edition), 1971-12, Vol.298 (7737), p.1289-1290

1971

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Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acid

Clinica chimica acta, 1983-08, Vol.132 (2), p.205-208

1983

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THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

The Lancet (British edition), 1971-02, Vol.297 (7694), p.310-312

1971

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Recommendations for locus-specific databases and their curation

A rapid procedure for extracting genomic DNA from leukocytes

Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

Laboratory Guide to the Methods in Biochemical Genetics

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the humanPAH gene

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene

Structural And Biochemical Characterization of the Therapeutic A. Variabilis Phenylalanine Ammonia Lyase

Guidelines and recommendations for content, structure, and deployment of mutation databases

Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes

Vitamin D Resistant Rickets — Pathophysiology of the Various Syndromes

A Pst^+ Polymorphism in the HEXA Gene with an Unusual Geographie Distribution

Defective Biopterin Biosynthesis in a Chinese Infant

Mutation profiles of phenylketonuria in Quebec populations : evidence of stratification and novel mutations

Nutrient-gene interactions: the gene is not the disease and vice versa

Methylmalonic acidemia with a severe chemical but benign clinical phenotype

Carrier screening for Tay-Sachs disease

Outcome of early and long-term management of classical maple syrup urine disease

Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency

Properties of gamma-aminobutyric acid synthesis by rat renal cortex

Age-dependent serum sulfate levels in children and adolescents

A microassay for analysis of serum sulfate

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acid

THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

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