Results 61 to 70 of about 1,800 (193)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha +2 more
wiley +1 more source
Pathophysiology of the Belgrade rat [PDF]
, 2014 The Belgrade rat is an animal model of divalent metal transporter 1 (DMT1) deficiency. This strain originates from an X-irradiation experiment first reported in 1966.
Abboud +124 more
core +3 more sources
Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles
Kidney International, 1988 Infants with hereditary tyrosinemia excrete succinylacetone (SA) in their urine, and suffer from a reversible renal Fanconi syndrome with glycosuria and hyperaminoaciduria. Thus, we have examined the effects of 4 mM SA on rat renal brush border membrane vesicle uptake of sugars and amino acids.
Spencer, Patricia D. +3 more
openaire +2 more sources
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro +22 more
wiley +1 more source
Antitumor Activity of Artemisinin and Its Derivatives: From a Well-Known Antimalarial Agent to a Potential Anticancer Drug [PDF]
, 2011 Improvement of quality of life and survival of cancer patients will be greatly enhanced by the development of highly effective drugs to selectively kill malignant cells.
P. Crespo-Ortiz, Maria, Wei, Ming
core +2 more sources
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program [PDF]
Rapid Communications in Mass Spectrometry, 2009 The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening ...
LA MARCA, GIANCARLO +6 more
openaire +4 more sources
Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids
Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang +7 more
wiley +1 more source
Heme oxygenase-1 regulates matrix metalloproteinase MMP-1 secretion and chondrocyte cell death via Nox4 NADPH oxidase activity in chondrocytes. [PDF]
PLoS ONE, 2013 Interleukin-1β (IL-1β) activates the production of reactive oxygen species (ROS) and secretion of MMPs as well as chondrocyte apoptosis. Those events lead to matrix breakdown and are key features of osteoarthritis (OA). We confirmed that in human C-20/A4
Francis Rousset +4 more
doaj +1 more source
Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder [PDF]
, 2016 Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders.
Antunes, D. +6 more
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