About 280 results

ALLMedicine™ Glycogen Storage Diseases Center

Research & Reviews  105 results

Towards values-based healthcare for inherited metabolic disorders: An overview of curre...
Journal of Inherited Metabolic Disease; Venema A, Peeks F et. al.

Sep 12th, 2022 - Value-based healthcare (VBHC) intends to achieve better outcomes for patients, to improve quality of patient care, with reduced costs. Four dimensions define a model of intimately related value-pillars: personal value, allocative value, technical ...

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
Orphanet Journal of Rare Diseases; Tagliaferri F, Massese M et. al.

Jul 20th, 2022 - Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI, IXa, IXb and IXc....

Body composition in patients with hepatic glycogen storage diseases.
Nutrition (Burbank, Los Angeles County, Calif.); Dos Santos BB, Colonetti K et. al.

Jul 18th, 2022 - The present study aimed to evaluate the body composition of hepatic glycogen storage disorders (GSDs) through dual energy x-ray absorptiometry. This was an exploratory, observational, cross-sectional study. Twenty-four patients with GSD (type Ia: ...

A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type I...
The Journal of Clinical Endocrinology and Metabolism; Rossi A, Venema A et. al.

Jul 6th, 2022 - Although previous research has shown the benefit of continuous glucose monitoring (CGM) for hepatic glycogen storage diseases (GSDs), current lack of prospectively collected CGM metrics and glycemic targets for CGM-derived outcomes in the hepatic ...

Inborn Errors of Metabolism: Becoming Ready for Rare.
Pediatrics in Review; Vergano SAS

Jul 1st, 2022 - Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children. The rarity and complexi...

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Clinicaltrials.gov  5 results

MSOT in Pompe Disease

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...

Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

Sep 16th, 2021 - 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...

Biomarker for Glycogen Storage Diseases (BioGlycogen)

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

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

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

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 →