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Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines for orphan drug development. It is the goal of this study to define new cellular disease models for Inborn Erors of Metabolism, as enabling tools for both drug discovery and development.
Inborn Errors of Metabolism
Skin biopsy, Withdraw of blood
Centogene AG Rostock
Published on BioPortfolio: 2019-09-25T06:13:27-0400
Inborn Errors of Metabolism (IEM) are a large group of congenital metabolic disorders, more than 800 IEM have been described in the literature. Biomarkers serve as measurable indicators of...
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...
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...
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolize glutamate, leading to inborn errors of glutamate metabolism....
Liver transplant (LT) is a therapeutic option for a growing number of inborn errors of metabolism (IEM), including some disorders not confined to the liver. Clinical advantages of LT in maple syrup ur...
Plasma acylcarnitines are biomarkers of beta-oxidation and are useful in diagnosing several inborn errors of metabolism but has never been systematically investigated in patients with mitochondrial my...
Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25-year aud...
Childhood fasting intolerance is a life-threatening problem associated with various inborn errors of metabolism. Plasma acylcarnitines reflect fatty acid oxidation and help determine fasting intoleran...
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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