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...

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.68-68, Article 68

2020

Volltextzugriff (PDF)

An update on serine deficiency disorders

Journal of inherited metabolic disease, 2013-07, Vol.36 (4), p.613-619

2013

Volltextzugriff (PDF)

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

Neurology, 2006-08, Vol.67 (4), p.719-721

2006

Volltextzugriff (PDF)

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.651-660

2016

Volltextzugriff (PDF)

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

Neurology, 2006-08, Vol.67 (3), p.480-484

2006

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)

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry

Analytica chimica acta, 2012-01, Vol.712, p.108-114

2012

Volltextzugriff (PDF)

Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase : Relevance to d-2-hydroxyglutaric and γ-hydroxybutyric acidurias

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.921-930

2005

Volltextzugriff (PDF)

Reduced brain choline in homocystinuria due to remethylation defects

Neurology, 2008-07, Vol.71 (1), p.44-49

2008

Volltextzugriff (PDF)

Inhibition of the pentose phosphate pathway decreases ischemia: reperfusion-induced creatine kinase release in the heart

Cardiovascular research, 2004-04, Vol.62 (1), p.145-153

2004

Volltextzugriff (PDF)

Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.951-963

2005

Volltextzugriff (PDF)

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.735-742

2007

Volltextzugriff (PDF)

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1149-1150

2005

Volltextzugriff (PDF)

The metabolism of phytanic acid and pristanic acid in man: A review

Journal of inherited metabolic disease, 1998-10, Vol.21 (7), p.697-728

1998

Volltextzugriff (PDF)

Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.651-652

2014

Volltextzugriff (PDF)

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

Annals of neurology, 1999-12, Vol.46 (6), p.925-928

1999

Volltextzugriff (PDF)

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

American journal of medical genetics. Part A, 2005-03, Vol.133A (2), p.122-127

2005

Volltextzugriff (PDF)

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Clinical nutrition (Edinburgh, Scotland), 2021-05, Vol.40 (5), p.3622-3630

2021

Volltextzugriff (PDF)

An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

Journal of pharmaceutical and biomedical analysis, 1998-12, Vol.18 (4), p.659-665

1998

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)

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Journal of inherited metabolic disease, 2005-01, Vol.28 (2), p.169-179

2005

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)

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Annals of neurology, 2000-04, Vol.47 (4), p.540-543

2000

Volltextzugriff (PDF)

Clinical approach to inherited peroxisomal disorders: A series of 27 patients

Annals of neurology, 1998-11, Vol.44 (5), p.720-730

1998

Volltextzugriff (PDF)

Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)

Journal of mass spectrometry., 2005-07, Vol.40 (7), p.882-889

2005

Volltextzugriff (PDF)

1 – 25 von 833

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(601)
Mit Volltextzugriff
(704)

Publikationsform

5 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(3)
... seit 90 Tagen
(12)

Menü

Weitere Dienste

Einstellungen

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

An update on serine deficiency disorders

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

X‐linked creatine transporter defect: An overview

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry

Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase : Relevance to d-2-hydroxyglutaric and γ-hydroxybutyric acidurias

Reduced brain choline in homocystinuria due to remethylation defects

Inhibition of the pentose phosphate pathway decreases ischemia: reperfusion-induced creatine kinase release in the heart

Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

The metabolism of phytanic acid and pristanic acid in man: A review

Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

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

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

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

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Clinical approach to inherited peroxisomal disorders: A series of 27 patients

Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)

Suchergebnisse filtern