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...

The pulvinar sign: frequency and clinical correlations in Fabry disease

Journal of neurology, 2008-05, Vol.255 (5), p.738-744

2008

Volltextzugriff (PDF)

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.5-22

2007

Volltextzugriff (PDF)

Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study

Journal of neurology, neurosurgery and psychiatry, 2008-11, Vol.79 (11), p.1249-1254

2008

Volltextzugriff (PDF)

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

Neurology, 2008-03, Vol.70 (10), p.748-754

2008

Volltextzugriff (PDF)

Malignant brain tumors in patients with glutaric aciduria type I

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.276-280

2018

Volltextzugriff (PDF)

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.413-417

2012

Volltextzugriff (PDF)

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene

Gene, 2015-04, Vol.559 (2), p.112-118

2015

Volltextzugriff (PDF)

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.313-316

2000

Volltextzugriff (PDF)

Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

European journal of neurology, 2019-03, Vol.26 (3), p.553-555

2019

Volltextzugriff (PDF)

Follow-up of a child with hypoacetylaspartia

Neuropediatrics, 2004-08, Vol.35 (4), p.255

2004

Volltextzugriff (PDF)

Treatable neurotransmitter deficiency in mild phenylketonuria

Neurology, 2001-09, Vol.57 (5), p.908-911

2001

Volltextzugriff (PDF)

Diffusion‐weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria

Journal of inherited metabolic disease, 2003-01, Vol.26 (5), p.417-422

2003

Volltextzugriff (PDF)

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.153-158

2007

Volltextzugriff (PDF)

Management of movement disorders in glutaryl‐CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options

Journal of inherited metabolic disease, 2004-01, Vol.27 (6), p.911-915

2004

Volltextzugriff (PDF)

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

JIMD Reports, Volume 23, 2015, Vol.23, p.17-26

2015

Volltextzugriff (PDF)

Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria

Journal of inherited metabolic disease, 2002-05, Vol.25 (2), p.135-136

2002

Volltextzugriff (PDF)

N-acetylaspartylglutamate in Canavan disease : an adverse effector?

European journal of pediatrics, 1999-05, Vol.158 (5), p.406-409

1999

Volltextzugriff (PDF)

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.179-181

2006

Volltextzugriff (PDF)

Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L‐DOPA

Journal of inherited metabolic disease, 2001-10, Vol.24 (5), p.596-598

2001

Volltextzugriff (PDF)

Mast Cells Contain Large Quantities of Secretagogue‐Sensitive N‐Acetylaspartate

Journal of neurochemistry, 1997-09, Vol.69 (3), p.1314-1317

1997

Volltextzugriff (PDF)

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study

European neurology, 2009-01, Vol.61 (1), p.46-49

2009

Volltextzugriff (PDF)

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Genetics in medicine, 2010-11, Vol.12 (11), p.703-712

2010

Volltextzugriff (PDF)

In Vivo proton MR spectroscopy of human gliomas: definition of metabolic coordinates for multi-dimensional classification

Magnetic resonance in medicine, 1995-08, Vol.34 (2), p.242-252

1995

Volltextzugriff (PDF)

MR spectroscopy : A powerful tool for investigating brain function and neurological diseases

Neurochemical research, 2000-10, Vol.25 (9-10), p.1365-1372

2000

Volltextzugriff (PDF)

Detection of increased urinary N-acetylaspartylglutamate in Canavan disease

European journal of pediatrics, 1994-07, Vol.153 (7), p.538-539

1994

Volltextzugriff (PDF)

1 – 25 von 323

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(236)
Mit Volltextzugriff
(259)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)
... seit 30 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

The pulvinar sign: frequency and clinical correlations in Fabry disease

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

Malignant brain tumors in patients with glutaric aciduria type I

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

Follow-up of a child with hypoacetylaspartia

Treatable neurotransmitter deficiency in mild phenylketonuria

Diffusion‐weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

Management of movement disorders in glutaryl‐CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria

N-acetylaspartylglutamate in Canavan disease : an adverse effector?

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L‐DOPA

Mast Cells Contain Large Quantities of Secretagogue‐Sensitive N‐Acetylaspartate

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

In Vivo proton MR spectroscopy of human gliomas: definition of metabolic coordinates for multi-dimensional classification

MR spectroscopy : A powerful tool for investigating brain function and neurological diseases

Detection of increased urinary N-acetylaspartylglutamate in Canavan disease

Suchergebnisse filtern