UB Paderborn / Katalog / Suche / in CDI

1 – 22 von 22

Sortiert nach

A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma

Journal of lipid research, 2012-07, Vol.53 (7), p.1399-1409

2012

Link zum Volltext

Verfügbarkeit prüfen

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels

Proceedings of the National Academy of Sciences - PNAS, 2014-09, Vol.111 (38), p.13689-13689

2014

Link zum Volltext

Verfügbarkeit prüfen

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Molecular genetics and metabolism, 2020-07, Vol.130 (3), p.209-214

2020

Link zum Volltext

Verfügbarkeit prüfen

CYP7B1: One Cytochrome P450, Two Human Genetic Diseases, and Multiple Physiological Functions

The Journal of biological chemistry, 2009-10, Vol.284 (42), p.28485-28489

2009

Link zum Volltext

Verfügbarkeit prüfen

Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

International journal of molecular sciences, 2022-12, Vol.23 (23), p.14938

2022

Link zum Volltext

Verfügbarkeit prüfen

Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101062, Article 101062

2024

Link zum Volltext

Verfügbarkeit prüfen

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100729, Article 100729

2021

Link zum Volltext

Verfügbarkeit prüfen

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Clinica chimica acta, 2020-12, Vol.511, p.132-137

2020

Link zum Volltext

Verfügbarkeit prüfen

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.91-99

2016

Link zum Volltext

Verfügbarkeit prüfen

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-03, Vol.25 (3), p.100342-100342, Article 100342

2023

Link zum Volltext

Verfügbarkeit prüfen

SRD5A3: A Surprising Role in Glycosylation

Cell, 2010-07, Vol.142 (2), p.196-198

2010

Link zum Volltext

Verfügbarkeit prüfen

Rescue of glutaric aciduria type I in mice by liver-directed therapies

Science translational medicine, 2023-04, Vol.15 (692), p.eadf4086

2023

Link zum Volltext

Verfügbarkeit prüfen

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy

Clinica chimica acta, 2020-09, Vol.508, p.179-184

2020

Link zum Volltext

Verfügbarkeit prüfen

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.161-167

2015

Link zum Volltext

Verfügbarkeit prüfen

New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria

JIMD Reports, Volume 25, 2016, Vol.25, p.15-19

2016

Link zum Volltext

Verfügbarkeit prüfen

Early presentation of Morquio B syndrome identified via skeletal et biochemical findings

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108286, Article 108286

2024

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic target organ and biomarker variation within a family with late onset Fabry disease

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S27-S27

2021

Link zum Volltext

Verfügbarkeit prüfen

RESCUE OF GLUTARIC ACIDURIA TYPE I MICE BY LIVER DIRECTED THERAPIES

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107377, Article 107377

2023

Link zum Volltext

Verfügbarkeit prüfen

Mass‐Spec Identification of Human Genetic Disease

The FASEB journal, 2011-04, Vol.25 (S1), p.938.4-938.4

2011

Link zum Volltext

Verfügbarkeit prüfen

Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency

Molecular genetics and metabolism reports, 2024, Vol.38, p.101062-101062

2024

Link zum Volltext

Verfügbarkeit prüfen

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

International journal of molecular sciences, 2022, Vol.23 (23)

2022

Link zum Volltext

Verfügbarkeit prüfen

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Molecular genetics and metabolism reports, 2021, Vol.27, p.100729-100729

2021

Link zum Volltext

Verfügbarkeit prüfen

1 – 22 von 22

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(19)
Mit Volltextzugriff
(21)

Publikationsform

Sprache

Englisch
(22)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

CYP7B1: One Cytochrome P450, Two Human Genetic Diseases, and Multiple Physiological Functions

Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

SRD5A3: A Surprising Role in Glycosylation

Rescue of glutaric aciduria type I in mice by liver-directed therapies

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria

Early presentation of Morquio B syndrome identified via skeletal et biochemical findings

Phenotypic target organ and biomarker variation within a family with late onset Fabry disease

RESCUE OF GLUTARIC ACIDURIA TYPE I MICE BY LIVER DIRECTED THERAPIES

Mass‐Spec Identification of Human Genetic Disease

Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Suchergebnisse filtern