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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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Galactose toxicity in animals

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

2009

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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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Prevention of a molecular misdiagnosis in galactosemia

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

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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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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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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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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Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria

Genetics in medicine, 2004-03, Vol.6 (2), p.90-95

2004

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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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Verbal dyspraxia and galactosemia

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

2003

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Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.52-56

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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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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The complete nucleotide sequence and environmental distribution of the cryptic, conjugative, broad-host-range plasmid pIPO2 isolated from bacteria of the wheat rhizosphere

Microbiology (Society for General Microbiology), 2002-06, Vol.148 (Pt 6), p.1637

2002

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Decreased half‐life of insulin‐like growth factor I in Rabson–Mendenhall syndrome

Journal of inherited metabolic disease, 2001-10, Vol.24 (5), p.546-550

2001

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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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Oxidation of galactose by galactose‐1‐phosphate uridyltransferase‐deficient lymphoblasts

Journal of inherited metabolic disease, 2001-07, Vol.24 (4), p.465-476

2001

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Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia

Molecular genetics and metabolism, 2001-04, Vol.72 (4), p.297-305

2001

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Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia

Prenatal diagnosis, 2001-04, Vol.21 (4), p.302-303

Elsas, Louis J.

2001

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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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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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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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Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes

Pediatric research, 2000-09, Vol.48 (3), p.323-328

2000

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

Galactose toxicity in animals

ARHI: A new target of galactose toxicity in Classic Galactosemia

Prevention of a molecular misdiagnosis in galactosemia

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

The history of the SIMD: From small molecules to metabolomics

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

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

Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria

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

Verbal dyspraxia and galactosemia

Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

Cessation of enzyme replacement therapy in Gaucher disease

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

The complete nucleotide sequence and environmental distribution of the cryptic, conjugative, broad-host-range plasmid pIPO2 isolated from bacteria of the wheat rhizosphere

Decreased half‐life of insulin‐like growth factor I in Rabson–Mendenhall syndrome

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

Oxidation of galactose by galactose‐1‐phosphate uridyltransferase‐deficient lymphoblasts

Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia

Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia

Risk factors for premature ovarian failure in females with galactosemia

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)

Gender verification in the Olympics

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes

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