UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 72

Sortiert nach

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

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

1999

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Position statement on interphase in situ hybridization prenatal diagnosis

American journal of medical genetics, 1993-06, Vol.46 (4), p.478-478

1993

Volltextzugriff (PDF)

Galactose toxicity in animals

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

2009

Volltextzugriff (PDF)

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

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

2010

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

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

2003

Volltextzugriff (PDF)

The molecular biology of galactosemia

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

1998

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

ARHI: A new target of galactose toxicity in Classic Galactosemia

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

2008

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Outcomes analysis of verbal dyspraxia in classic galactosemia

Genetics in medicine, 2000-03, Vol.2 (2), p.142-148

2000

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

1998

Volltextzugriff (PDF)

The human galactose-1-phosphate uridyltransferase gene

Genomics (San Diego, Calif.), 1992-10, Vol.14 (2), p.474-480

1992

Volltextzugriff (PDF)

Isotopic determination of organic keto acid pentafluorobenzyl esters in biological fluids by negative chemical ionization gas chromatography/mass spectrometry

Analytical chemistry (Washington), 1991-05, Vol.63 (9), p.919-923

1991

Volltextzugriff (PDF)

1 – 25 von 72

Suche als RSS-Feed

Aktive Filter

ThemaFemale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(66)
Mit Volltextzugriff
(64)

Publikationsform

Artikel
(72)

Sprache

Englisch
(72)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

Science & Technology
(70)
Life Sciences & Biomedicine
(66)
Humans
(52)
Biological And Medical Sciences
(22)
Genetics & Heredity
(20)
Biochemistry & Molecular Biology
(19)
Animals
(18)
Kinetics
(16)
Utp-Hexose-1-Phosphate Uridylyltransferase - Genetics
(14)
Medical Sciences
(13)
Endocrinology & Metabolism
(12)
Galactosemias - Genetics
(12)
Medicine, Research & Experimental
(12)
Molecular Sequence Data
(12)
Research & Experimental Medicine
(12)
Base Sequence
(11)
Child
(10)
General & Internal Medicine
(10)
Medicine, General & Internal
(10)
Mutation
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

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

Position statement on interphase in situ hybridization prenatal diagnosis

Galactose toxicity in animals

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

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)

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

The molecular biology of galactosemia

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

The history of the SIMD: From small molecules to metabolomics

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

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

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

ARHI: A new target of galactose toxicity in Classic Galactosemia

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

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

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

Outcomes analysis of verbal dyspraxia in classic galactosemia

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

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

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

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

The human galactose-1-phosphate uridyltransferase gene

Isotopic determination of organic keto acid pentafluorobenzyl esters in biological fluids by negative chemical ionization gas chromatography/mass spectrometry

Aktive Filter

Suchergebnisse filtern