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...

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-04, Vol.21 (4), p.772-789

2019

Volltextzugriff (PDF)

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

JIMD reports, 2023-09, Vol.64 (5), p.303-311

2023

Volltextzugriff (PDF)

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100848, Article 100848

2022

Volltextzugriff (PDF)

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100821-100821, Article 100821

2021

Volltextzugriff (PDF)

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV

Genetics in Medicine Open, 2023, Vol.1 (1), p.100114, Article 100114

2023

Volltextzugriff (PDF)

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results

Nutrients, 2024-09, Vol.16 (19), p.3244

2024

Volltextzugriff (PDF)

The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63637-n/a

2024

Volltextzugriff (PDF)

TRIHEPTANOIN FOR PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE I (GSDI): PILOT CLINICAL TRIAL RESULTS

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107409, Article 107409

2023

Volltextzugriff (PDF)

Role of continuous glucose monitoring in the management of glycogen storage disorders

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.917-927

2018

Volltextzugriff (PDF)

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

Molecular genetics and metabolism, 2016-06, Vol.118 (2), p.72-83

2016

Volltextzugriff (PDF)

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Genetics in medicine, 2019-12, Vol.21 (12), p.2686-2694

2019

Volltextzugriff (PDF)

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108144-108144, Article 108144

2024

Volltextzugriff (PDF)

A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.275-276

2022

Volltextzugriff (PDF)

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107525-107525, Article 107525

2023

Volltextzugriff (PDF)

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.770-777

2020

Volltextzugriff (PDF)

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3364-3368

2022

Volltextzugriff (PDF)

Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1581-1584

2009

Volltextzugriff (PDF)

The Diagnosis and Management of a Female With Mild Citrullinemia and Undetectable Argininosuccinate Synthetase Activity in Fibroblasts

Topics in clinical nutrition, 2009-10, Vol.24 (4), p.366-373

2009

Volltextzugriff (PDF)

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

JIMD Reports, Volume 40, 2018, Vol.40, p.85-90

2018

Volltextzugriff (PDF)

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

JIMD Reports, Volume 37, 2017, Vol.37, p.63-72

2017

Volltextzugriff (PDF)

Inborn Errors of Metabolism

Pediatric Nutrition for Dietitians, 2022, p.337-362

1, 2022

Volltextzugriff (PDF)

Hepatosplenomegaly in an 8-Month-Old Child

Laboratory medicine, 2006-11, Vol.37 (11), p.665-695

2006

Volltextzugriff (PDF)

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Molecular genetics and metabolism reports, 2022, Vol.31, p.100848-100848

2022

Volltextzugriff (PDF)

1 – 23 von 23

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(21)
Mit Volltextzugriff
(22)

Publikationsform

Sprache

Englisch
(23)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results

The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD

TRIHEPTANOIN FOR PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE I (GSDI): PILOT CLINICAL TRIAL RESULTS

Role of continuous glucose monitoring in the management of glycogen storage disorders

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly

Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome

The Diagnosis and Management of a Female With Mild Citrullinemia and Undetectable Argininosuccinate Synthetase Activity in Fibroblasts

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

Inborn Errors of Metabolism

Hepatosplenomegaly in an 8-Month-Old Child

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Suchergebnisse filtern