UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

Clinical genetics, 2011-03, Vol.79 (3), p.264-272

2011

Volltextzugriff (PDF)

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Biochimica et biophysica acta. Molecular basis of disease, 2017-01, Vol.1863 (1), p.33-42

2017

Volltextzugriff (PDF)

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.795-800

2016

Volltextzugriff (PDF)

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

American journal of human genetics, 2005-02, Vol.76 (2), p.358-360

2005

Volltextzugriff (PDF)

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

American journal of human genetics, 2004-07, Vol.75 (1), p.97-105

2004

Volltextzugriff (PDF)

X-Linked Creatine-Transporter Gene ( SLC6A8) Defect: A New Creatine-Deficiency Syndrome

American journal of human genetics, 2001-06, Vol.68 (6), p.1497-1500

2001

Volltextzugriff (PDF)

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord

Neurology, 2006-02, Vol.66 (4), p.494-498

2006

Volltextzugriff (PDF)

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

Clinical genetics, 2015-02, Vol.87 (2), p.141-147

2015

Volltextzugriff (PDF)

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

American journal of human genetics, 2004-04, Vol.74 (4), p.745-751

2004

Volltextzugriff (PDF)

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Human mutation, 2003-12, Vol.22 (6), p.442-450

2003

Volltextzugriff (PDF)

Unusual variants of Alexander's disease

Annals of neurology, 2005-03, Vol.57 (3), p.327-338

2005

Volltextzugriff (PDF)

Tumor-specific down-regulation of the tumor necrosis factor-related apoptosis-inducing ligand decoy receptors DcR1 and DcR2 is associated with dense promoter hypermethylation

Cancer research (Chicago, Ill.), 2002-04, Vol.62 (7), p.2157-2161

2002

Volltextzugriff (PDF)

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Molecular genetics and metabolism, 2004-07, Vol.82 (3), p.214-219

2004

Volltextzugriff (PDF)

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Annals of neurology, 2001-03, Vol.49 (3), p.401-404

2001

Volltextzugriff (PDF)

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Clinical biochemistry, 2007-11, Vol.40 (16), p.1328-1331

2007

Volltextzugriff (PDF)

Laboratory diagnosis of defects of creatine biosynthesis and transport

Clinica chimica acta, 2005-11, Vol.361 (1), p.1-9

2005

Volltextzugriff (PDF)

X‐linked creatine transporter defect: An overview

Journal of inherited metabolic disease, 2003-01, Vol.26 (2-3), p.309-318

2003

Volltextzugriff (PDF)

Lack of creatine in muscle and brain in an adult with GAMT deficiency

Annals of neurology, 2003-02, Vol.53 (2), p.248-251

2003

Volltextzugriff (PDF)

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

Annals of neurology, 2002-08, Vol.52 (2), p.227-231

2002

Volltextzugriff (PDF)

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

American journal of human genetics, 2002-05, Vol.70 (5), p.1349-1356

2002

Volltextzugriff (PDF)

X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.214-219

2006

Volltextzugriff (PDF)

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

American journal of human genetics, 2001-05, Vol.68 (5), p.1086-1092

2001

Volltextzugriff (PDF)

The clinical syndrome of creatine transporter deficiency

Molecular and cellular biochemistry, 2003-02, Vol.244 (1-2), p.45-48

2003

Volltextzugriff (PDF)

Propensity for paternal inheritance of de novo mutations in Alexander disease

Human genetics, 2006-03, Vol.119 (1-2), p.137-144

2006

Volltextzugriff (PDF)

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

Annals of neurology, 2005-10, Vol.58 (4), p.626-630

2005

Volltextzugriff (PDF)

1 – 25 von 55

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(55)
Mit Volltextzugriff
(49)

Publikationsform

Artikel
(53)
Tagungsberichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(51)
Science & Technology
(51)
Humans
(46)
Biological And Medical Sciences
(28)
Female
(27)
Male
(27)
Medical Sciences
(26)
Genetics & Heredity
(25)
Mutation
(20)
Child
(18)
Child, Preschool
(14)
Adult
(12)
Endocrinology & Metabolism
(12)
Medicine, Research & Experimental
(12)
Research & Experimental Medicine
(12)
Neurology
(11)
Clinical Neurology
(10)
Metabolism, Inborn Errors - Genetics
(10)
Neurosciences & Neurology
(10)
Metabolic Diseases
(9)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

X-Linked Creatine-Transporter Gene ( SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Unusual variants of Alexander's disease

Tumor-specific down-regulation of the tumor necrosis factor-related apoptosis-inducing ligand decoy receptors DcR1 and DcR2 is associated with dense promoter hypermethylation

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Laboratory diagnosis of defects of creatine biosynthesis and transport

X‐linked creatine transporter defect: An overview

Lack of creatine in muscle and brain in an adult with GAMT deficiency

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

The clinical syndrome of creatine transporter deficiency

Propensity for paternal inheritance of de novo mutations in Alexander disease

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

Suchergebnisse filtern