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Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

2015-12-22 06:25:48 | BioPortfolio

Published on BioPortfolio: 2015-12-22T06:25:48-0500

Clinical Trials [703 Associated Clinical Trials listed on BioPortfolio]

Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland

This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. .

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabo...

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism unde...

Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR

The objective of this pilot study is to prospectively evaluate amniotic fluid of pregnancies complicated by non-immune hydrops and severe symmetrical intrauterine growth restriction by tan...

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to pat...

PubMed Articles [5792 Associated PubMed Articles listed on BioPortfolio]

Contemporary scope of inborn errors of metabolism involving epilepsy or seizures.

Many inborn errors of metabolism may present with epilepsy or seizures, however, current scope of these diseases is unknown. Due to available precision medicine approaches in many inborn errors of met...

A proposed nosology of inborn errors of metabolism.

We propose a nosology for inborn errors of metabolism that builds on their recent redefinition.

Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM).

Endocrinologists may encounter abnormal results in routine laboratory tests while caring for patients with inborn errors of metabolism. This article provides a framework for understanding these abnorm...

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates.

Inborn errors of metabolism (IEMs) are disorders with various manifestations that occur mainly in the pediatric population. In countries where consanguineous marriage is common, the association betwee...

A gray area for reimbursement: medical foods for non-inborn errors of metabolism.

The use of medical foods (MFs) specifically for non-inborn errors of metabolism (non-IEM) is rising. Concomitantly, evidence for the safety and efficacy of these non-IEM MFs is lacking. We examined th...

Medical and Biotech [MESH] Definitions

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.

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