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Published on BioPortfolio: 2015-12-22T06:25:48-0500
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. .
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...
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...
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...
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...
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...
There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neuro...
We propose a nosology for inborn errors of metabolism that builds on their recent redefinition.
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...
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...
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.