Results 221 to 230 of about 20,402 (244)

Danon Disease Diagnosed by Multimodal Imaging. [PDF]

JACC Case Rep
Li X, Yang W, Zhang X, Xu H, Wang R.
europepmc   +1 more source

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

RNA-Based Therapies for Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
Vootukuri RS, Gurung S, Ghosh R, Mills PB, Baruteau J, Zhou H.   +5 more
europepmc   +1 more source

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European Journal of Pediatrics, 2002
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
Philippe Labrune, Kurt Ullrich, Udo Wendel   +2 more
exaly   +2 more sources

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series ofpatients and experience with long-term management and follow-up at each centre
Philippe Labrune, Kurt Ullrich, G Peter A Smit   +2 more
exaly   +3 more sources

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Glycogen Storage Disease Type III diagnosis and management guidelines

Genetics in Medicine, 2010
Priya S Kishnani, Stephanie L Austin, Pamela Arn   +2 more
exaly  

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

Clinica Chimica Acta, 2004
Mariana Blanco
exaly  

Hepatocyte Transplantation for Glycogen Storage Disease Type Ib

Cell Transplantation, 2007
Kwang-Woong Lee, Ji-Hyun Lee, Sung Wook Shin   +2 more
exaly