UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 2.155

Sortiert nach

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.916-923

2007

Volltextzugriff (PDF)

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.88-96

2008

Volltextzugriff (PDF)

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.729-732

2008

Volltextzugriff (PDF)

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

Volltextzugriff (PDF)

Liver transplantation for glycogen storage disease types I, III, and IV

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S43-S048

1999

Volltextzugriff (PDF)

A different approach to breast-feeding of the infant with phenylketonuria

European journal of pediatrics, 2003-05, Vol.162 (5), p.323-326

2003

Volltextzugriff (PDF)

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.27-31

2009

Volltextzugriff (PDF)

From genome to phenome—Simple inborn errors of metabolism as complex traits

Biochimica et biophysica acta. Molecular basis of disease, 2014-10, Vol.1842 (10), p.2021-2029

2014

Volltextzugriff (PDF)

Liver transplantation in glycogen storage disease type I

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.47-47, Article 47

2014

Volltextzugriff (PDF)

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.725-733

2004

Volltextzugriff (PDF)

Characteristic growth pattern in male X‐linked phosphorylase‐b kinase deficiency (GSD IX)

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.43-47

2003

Volltextzugriff (PDF)

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Human genetics, 1999-01, Vol.104 (1), p.1-9

1999

Volltextzugriff (PDF)

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.224-225

2006

Volltextzugriff (PDF)

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross‐sectional and longitudinal study

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.371-384

2003

Volltextzugriff (PDF)

Intestinal function in glycogen storage disease type I

Journal of inherited metabolic disease, 2002-06, Vol.25 (4), p.261-267

2002

Volltextzugriff (PDF)

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.95-98

2005

Volltextzugriff (PDF)

Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature

European journal of pediatrics, 1997-11, Vol.156 (11), p.870-873

1997

Volltextzugriff (PDF)

Inherited metabolic diseases and pregnancy

BJOG : an international journal of obstetrics and gynaecology, 2005-01, Vol.112 (1), p.2-11

2005

Volltextzugriff (PDF)

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

Journal of inherited metabolic disease, 1996-01, Vol.19 (5), p.645-654

1996

Volltextzugriff (PDF)

The success of dietary protein restriction in alkaptonuria patients is age‐dependent

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.791-798

1998

Volltextzugriff (PDF)

Phenylketonuria: Tyrosine beyond the phenylalanine‐restricted diet

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.1-4

2001

Volltextzugriff (PDF)

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

The Journal of pediatrics, 2000-08, Vol.137 (2), p.187-191

2000

Volltextzugriff (PDF)

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing

Pediatrics (Evanston), 1993-10, Vol.92 (4), p.570

1993

Volltextzugriff (PDF)

Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study

European journal of pediatrics, 1996-07, Vol.155 Suppl 1 (S1), p.S78-S81

1996

Volltextzugriff (PDF)

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.227-231

1998

Volltextzugriff (PDF)

1 – 25 von 2.155

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.952)
Mit Volltextzugriff
(1.931)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

5 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(1.517)
Life Sciences & Biomedicine
(1.192)
Humans
(1.055)
Female
(683)
Male
(660)
Biological And Medical Sciences
(512)
Middle Aged
(445)
Medical Sciences
(442)
Adult
(387)
Aged
(344)
Physical Sciences
(227)
Oncology
(173)
Animals
(172)
Risk Factors
(160)
Technology
(145)
Adolescent
(142)
Treatment Outcome
(138)
Child
(120)
Fundamental And Applied Biological Sciences. Psychology
(113)
Cardiovascular System & Cardiology
(107)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Annals Of Oncology
(40)
Journal Of Inherited Metabolic Disease
(30)
Journal Of Clinical Oncology
(25)
Plos One
(22)
European Journal Of Pediatrics
(21)
Science
(20)
The Astrophysical Journal
(18)
The Journal Of Biological Chemistry
(17)
Physical Review. C, Nuclear Physics
(16)
The Lancet
(16)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(6)
... seit 90 Tagen
(12)

Menü

Weitere Dienste

Einstellungen

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Liver transplantation for glycogen storage disease types I, III, and IV

A different approach to breast-feeding of the infant with phenylketonuria

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

From genome to phenome—Simple inborn errors of metabolism as complex traits

Liver transplantation in glycogen storage disease type I

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

Characteristic growth pattern in male X‐linked phosphorylase‐b kinase deficiency (GSD IX)

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross‐sectional and longitudinal study

Intestinal function in glycogen storage disease type I

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature

Inherited metabolic diseases and pregnancy

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

The success of dietary protein restriction in alkaptonuria patients is age‐dependent

Phenylketonuria: Tyrosine beyond the phenylalanine‐restricted diet

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing

Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c

Suchergebnisse filtern