Results 91 to 100 of about 4,590,707 (207)
Molecular Genetics and Metabolism Reports, 2017 Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López +9 more
doaj +1 more source
hERG1 channels and potential therapeutics for long QT syndrome
The Journal of Physiology, EarlyView.Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider +3 more
wiley +1 more source
Journal of the Peripheral Nervous System, Volume 31, Issue 4, December 2026.ABSTRACT Background and Aims Maple syrup urine disease (MSUD) is an inherited disorder of branched‐chain amino acid metabolism caused by deficiency of the branched‐chain α‐keto acid dehydrogenase complex. Neurological manifestations predominantly involve the central nervous system, whereas peripheral nervous system involvement has been rarely reported.
Gustavo Rodrigues Ferreira Gomes +7 more
wiley +1 more source
A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders
Talanta OpenAdvancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran +6 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 11, November 2026.Betaine helps to restore the dysfunctional communication between oxidative stress and inflammation, and it also improves demyelination in cuprizone‐induced demyelinating disease within the cerebral cortex. ABSTRACT Cortical grey matter pathology manifests early demyelinating diseases and is a primary driver of permanent neurological impairment.
Yara M. Said +4 more
wiley +1 more source
Long-Chain Polyunsaturated Fatty Acids in Inborn Errors of Metabolism
, 2010 The treatment of children with inborn errors of metabolism (IEM) is mainly based on restricted dietary intake of protein-containing foods. However, dietary protein restriction may not only reduce amino acid intake, but may be associated with low intake ...
Tamás Decsi, Katalin Fekete
core +1 more source
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan +23 more
wiley +1 more source
High-Risk Screening and Diagnosis of Inborn Errors of Metabolism [PDF]
, 2018 Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step.
Giugliani, Roberto +8 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels +21 more
wiley +1 more source