Suchergebnisse - "Glycogen storage disease type IV"

PubPharm (37)

1

Unraveling a history of overlap : A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV

enthalten in: American journal of medical genetics. Part A | 2024

von Crane, H. | Asher, S. | Conway, L. | +2

2

Glycogen storage disease type IV without detectable polyglucosan bodies : importance of broad gene panels

enthalten in: Neuromuscular disorders : NMD | 2023

von Oliwa, A. | Langlands, G. | Sarkozy, A. | +10

3

GBE Deficiency (GSD IV and APBD) Natural History Study : GBE Deficiency (GSD IV and APBD) Natural History Study

enthalten in: ClinicalTrials.gov | 2023

4

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

enthalten in: Molecular genetics and metabolism | 2023

von Koch, R. | Soler-Alfonso, C. | Kiely, B. | +16

5

Biomarker for Glycogen Storage Diseases (BioGlycogen) : Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

enthalten in: ClinicalTrials.gov | 2023

6

Case report : Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

enthalten in: Frontiers in genetics | 2023

von Gayed, M. | Sgobbi, P. | Pinto, W. | +2

7

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

in: Frontiers in Genetics | 2023

von Matthew M. Gayed | Paulo Sgobbi | Wladimir Bocca Viera De Rezende Pinto | +2

8

A surprising cause of proteinuria : Answers

enthalten in: Pediatric nephrology (Berlin, Germany) | 2022

von Demir, B. | Kanık, A. | Köse, M. | +2

9

A novel approach to characterize phenotypic variation in GSD IV : Reconceptualizing the clinical continuum

enthalten in: Frontiers in genetics | 2022

von Kiely, B. | Koch, R. | Flores, L. | +3

10

A surprising cause of proteinuria: Answers

enthalten in: Pediatric nephrology | 2022

von Demir, B. | Kanık, A. | Köse, M. | +2