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About 288 results

ALLMedicine™ Glycogen Storage Diseases Center

Research & Reviews  108 results

Whole exome sequencing reveals several novel variants in congenital disorders of glycos...
https://doi.org/10.1002/mgg3.2099
Molecular Genetics & Genomic Medicine; Papi A, Zamani M et. al.

Dec 30th, 2022 - Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O- as well as N-g...

Metabolic Myopathies.
https://doi.org/10.1212/CON.0000000000001182
Continuum (Minneapolis, Minn.); Tarnopolsky MA

Dec 21st, 2022 - Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. Impairments in glycogenolysi...

Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues f...
https://doi.org/10.1016/j.cyto.2022.156088
Cytokine Colonetti K, Pinto E Vairo F et. al.

Dec 4th, 2022 - Hepatic Glycogen Storage Diseases (GSD) are rare genetic disorders in which the gluconeogenesis pathway is impaired. Cytokines control virtually every aspect of physiology and may help to elucidate some unsolved questions about phenotypes presente...

Glycogen Storage Diseases Types I-VII
http://emedicine.medscape.com/article/1116574-overview

Dec 1st, 2022 - Background Glycogen storage disease type I Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose h...

Glycogen Storage Diseases Types I-VII
https://emedicine.medscape.com/article/1116574-print

Dec 1st, 2022 - Background Glycogen storage disease type I Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose h...

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Clinicaltrials.gov  5 results

Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
https://clinicaltrials.gov/ct2/show/NCT04929002

Oct 31st, 2022 - The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Patients with Glycogen Storage Diseases will be exa...

MSOT in Pompe Disease
https://clinicaltrials.gov/ct2/show/NCT05083806

Jun 6th, 2022 - Pompe disease (PD) is a rare, autosomal-recessive disorder caused by deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA), leading to generalized build-up of glycogen, especially in the heart, muscle, liver and nervous system. Among the...

Biomarker for Glycogen Storage Diseases (BioGlycogen)
https://clinicaltrials.gov/ct2/show/NCT02385162

May 13th, 2021 - Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. People with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Th...

The Use of Uncooked Sweet Polvilho to Treat Hepatic Glycogen Storage Diseases
https://clinicaltrials.gov/ct2/show/NCT03871673

Feb 17th, 2020 - A randomize and crossover study will be conducted on two consecutive days, comparing the use of classic cornstarch to the use of sweet polvilho in patients with Glycogen Storage Disease type Ia. Ten patients diagnosed with Glycogen Storage Disease...

Prenatal Computer-Aided Genetics Education Module
https://clinicaltrials.gov/ct2/show/NCT03449225

May 2nd, 2019 - Rationale Cytogenetic abnormalities are present in nearly 1% of live births, in approximately 2% of pregnancies in women older than 35 years who undergo prenatal diagnosis, and in fully half of all spontaneous, first-trimester abortions. Genetic c...

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News  1 results

Skill Checkup: A 68-Year-Old Man With Acute Decompensated Heart Failure, Worsening Dyspnoea and Lower Extremity Oedema
https://www.medscape.com/viewarticle/977811

Aug 18th, 2022 - The Skill Checkup series provides a quick, case-style interactive quiz, highlighting key guideline- and evidence-based information to inform clinical practice. A 68-year-old Black man in Europe was admitted to the hospital for acute decompensated ...

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Patient Education  1 results see all →