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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Science (American Association for the Advancement of Science), 1988-12, Vol.242 (4884), p.1427-1430

1988

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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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Galactose toxicity in animals

IUBMB life, 2009-11, Vol.61 (11), p.1063-1074

2009

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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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Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

Pediatrics (Evanston), 1996-04, Vol.97 (4), p.512

1996

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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Biochemical and biophysical research communications, 1990-08, Vol.171 (1), p.498-505

1990

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Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

Human mutation, 2003-12, Vol.22 (6), p.434-441

2003

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells

Glycobiology (Oxford), 2003-04, Vol.13 (4), p.285-294

2003

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Risk factors for premature ovarian failure in females with galactosemia

The Journal of pediatrics, 2000-12, Vol.137 (6), p.833-841

2000

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Overexpression of Human UDP-Glucose Pyrophosphorylase Rescues Galactose-1-Phosphate Uridyltransferase-Deficient Yeast

Biochemical and biophysical research communications, 2000-05, Vol.271 (2), p.392-400

2000

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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

The Journal of pediatrics, 2000-10, Vol.137 (4), p.S1-S47

2000

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The molecular biology of galactosemia

Genetics in medicine, 1998-11, Vol.1 (1), p.40-48

1998

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The history of the SIMD: From small molecules to metabolomics

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.204-209

Elsas, Louis J.

2006

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A structure–function study of MID1 mutations associated with a mild Opitz phenotype

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.198-203

2006

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Verbal dyspraxia and galactosemia

Pediatric research, 2003-03, Vol.53 (3), p.396-402

2003

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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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Structure-Function Analyses of a Common Mutation in Blacks with Transferase-Deficiency Galactosemia

Molecular genetics and metabolism, 2001-09, Vol.74 (1-2), p.264-272

2001

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Evidence that microdeletions in the α globin gene protect against the development of sickle cell glomerulopathy in humans

Journal of the American Society of Nephrology, 1999-05, Vol.10 (5), p.1014-1019

1999

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Prevention of a molecular misdiagnosis in galactosemia

Genetics in medicine, 2006-03, Vol.8 (3), p.178-182

2006

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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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Gender verification in the Olympics

JAMA : the journal of the American Medical Association, 2000-09, Vol.284 (12), p.1568

2000

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Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors

Genetics in medicine, 2004-03, Vol.6 (2), p.96-101

2004

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Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

Chemico-biological interactions, 2010-12, Vol.188 (3), p.376-385

2010

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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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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

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

Galactose toxicity in animals

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

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

Risk factors for premature ovarian failure in females with galactosemia

Overexpression of Human UDP-Glucose Pyrophosphorylase Rescues Galactose-1-Phosphate Uridyltransferase-Deficient Yeast

US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

The molecular biology of galactosemia

The history of the SIMD: From small molecules to metabolomics

A structure–function study of MID1 mutations associated with a mild Opitz phenotype

Verbal dyspraxia and galactosemia

Cessation of enzyme replacement therapy in Gaucher disease

Structure-Function Analyses of a Common Mutation in Blacks with Transferase-Deficiency Galactosemia

Evidence that microdeletions in the α globin gene protect against the development of sickle cell glomerulopathy in humans

Prevention of a molecular misdiagnosis in galactosemia

ARHI: A new target of galactose toxicity in Classic Galactosemia

Gender verification in the Olympics

Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

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

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