About 1,075 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  398 results

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causi...
European Journal of Medical Genetics; Nayab A, Alam Q et. al.

Jul 9th, 2021 - Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) h...

Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomy...
Journal of Pediatric Endocrinology & Metabolism : JPEM; Kara E, Kor D et. al.

Jun 26th, 2021 - Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia and rhabdomyolysis. Here, we first report a patient with dermatological findings, hemodi...

Modeling phenotypic heterogeneity of Glycogen Storage Disease type Ia liver disease in ...
Hepatology (Baltimore, Md.); Rutten MGS, Derks TGJ et. al.

Jun 23rd, 2021 - Patients with Glycogen Storage Disease type 1a (GSD Ia) primarily present with life-threatening hypoglycemia and display severe liver disease characterized by hepatomegaly. Despite strict dietary management, long-term complications still occur, am...

Genetic characterization of short stature patients with overlapping features of growth ...
The Journal of Clinical Endocrinology and Metabolism; Andrews A, Maharaj A et. al.

Jun 18th, 2021 - Growth hormone insensitivity (GHI) in children is characterized by short stature, functional IGF-I deficiency and normal or elevated serum GH concentrations. The clinical and genetic etiology of GHI is expanding. We undertook genetic characterizat...

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc star...
Orphanet Journal of Rare Diseases; Monteiro VCL, de Oliveira BM et. al.

Jun 5th, 2021 - Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its i...

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Clinicaltrials.gov  26 results

Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I

May 5th, 2020 - Prior to first study appointment: A medical record review will be done prior to the appointment to confirm the diagnosis of GSD I. For interested subjects who are not already known to the investigators (i.e., patients of the Duke University Medica...

Growth and Development Study of Alglucosidase Alfa.

Feb 19th, 2020 - Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar...

The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)

Oct 16th, 2019 - BACKGROUND This project will investigate the treatment potential of the drug Triheptanoin in patients with the inborn defect in glycogen metabolism, McArdle Disease. There is currently no treatment available for this group of patients. The conditi...

Glycogen Storage Disease Breath Test Study

Aug 22nd, 2019 - Purpose: Glycogen storage disease type I (GSD I), also known as Von Gierke disease is caused by deficiency of glucose-6-phosphatase (G6Pase) enzyme affecting 1:100,000 births worldwide. Therefore, deficiency of this enzyme results in accumulation ...

Study of ORL-1G in Patients With Glycogen Storage Disease Type 14

Oct 8th, 2018 - Study of ORL-1G in Patients With Glycogen Storage Disease Type 14

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News  4 results

Tests reveal risk of passing on SCD, other diseases
HT Staff

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

A 5-Year-Old Girl With Massive Hepatosplenomegaly, Fever, and Rash

May 3rd, 2004 - Commentary This case demonstrates the importance of a thorough evaluation for hepatosplenomegaly. Although hepatosplenomegaly in a child may be caused by an infection, it is important to consider infiltrative process, metabolic, or storage disease...

Update: Radiologic-Pathologic Correlation of Hepatocellular Adenoma

Abstract and Introduction Introduction Hepatocellular adenoma (HA) is a relatively uncommon benign liver neoplasm that is typically seen in obese women of childbearing age who are on long-term oral contraceptives.[1] It is also reported to occur i...

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Patient Education  2 results see all →