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...

Niemann–Pick disease type C: introduction and main clinical features

Journal of neurology, 2014-09, Vol.261 (Suppl 2), p.525-527

Burlina, A.

2014

Volltextzugriff (PDF)

The complete European guidelines on phenylketonuria: diagnosis and treatment

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.162-162, Article 162

2017

Volltextzugriff (PDF)

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

European journal of neurology, 2020-06, Vol.27 (6), p.909-927

2020

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)

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)

PKU dietary handbook to accompany PKU guidelines

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.171-171, Article 171

2020

Volltextzugriff (PDF)

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)

Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants

Clinical genetics, 2018-02, Vol.93 (2), p.206-215

2018

Volltextzugriff (PDF)

Heritable and non-heritable uncommon causes of stroke

Journal of neurology, 2021-08, Vol.268 (8), p.2780-2807

2021

Volltextzugriff (PDF)

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Neurology, 2010-07, Vol.75 (1), p.64-71

2010

Volltextzugriff (PDF)

Clinical, biochemical and molecular characterization of prosaposin deficiency

Clinical genetics, 2016-09, Vol.90 (3), p.220-229

2016

Volltextzugriff (PDF)

Effect of BH₄ supplementation on phenylalanine tolerance

Journal of inherited metabolic disease, 2009, Vol.32 (1), p.40-45

2009

Volltextzugriff (PDF)

Basilar Artery Changes in Fabry Disease

American journal of neuroradiology : AJNR, 2017-03, Vol.38 (3), p.531-536

2017

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)

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)

Correction to: PKU dietary handbook to accompany PKU guidelines

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.1-230, Article 230

2020

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)

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

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

2008

Volltextzugriff (PDF)

Formulation and Clinical Evaluation of Sodium Benzoate Oral Solution for the Treatment of Urea Cycle Disorders in Pediatric Patients

AAPS PharmSciTech, 2020-03, Vol.21 (3), p.100-100, Article 100

2020

Volltextzugriff (PDF)

Correction to: Heritable and non-heritable uncommon causes of stroke

Journal of neurology, 2021-08, Vol.268 (8), p.2808-2809

2021

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)

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Journal of medical genetics, 2008-07, Vol.45 (7), p.473-478

2008

Volltextzugriff (PDF)

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

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)

1 – 25 von 1.054

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(801)
Mit Volltextzugriff
(796)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

2 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(7)

Menü

Weitere Dienste

Einstellungen

Niemann–Pick disease type C: introduction and main clinical features

The complete European guidelines on phenylketonuria: diagnosis and treatment

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Malignant brain tumors in patients with glutaric aciduria type I

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

PKU dietary handbook to accompany PKU guidelines

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)

Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants

Heritable and non-heritable uncommon causes of stroke

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Clinical, biochemical and molecular characterization of prosaposin deficiency

Effect of BH₄ supplementation on phenylalanine tolerance

Basilar Artery Changes in Fabry Disease

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

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Correction to: PKU dietary handbook to accompany PKU guidelines

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

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

Formulation and Clinical Evaluation of Sodium Benzoate Oral Solution for the Treatment of Urea Cycle Disorders in Pediatric Patients

Correction to: Heritable and non-heritable uncommon causes of stroke

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

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

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

Suchergebnisse filtern