Results 81 to 90 of about 1,641 (186)
The role of melanin in the grapevine trunk disease pathogen Lasiodiplodia gilanensis [PDF]
, 2020 Lasiodiplodia (Botryosphaeriaceae) includes fungi that are considered among the most aggressive to grapevine, capable of causing cankers and necrotic lesions which eventually lead to death of host plants.
Hernandez Martinez, Rufina +3 more
core +1 more source
Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria - Is nitisinone the solution? [PDF]
, 2020 Haemolysis and methaemoglobinaemia (MetHb) are rare metabolic complications that can occur in Alkaptonuria (AKU), for which there is no curative treatment.
Davison, AS +3 more
core +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
core
Efficacy of low dose nitisinone in the management of alkaptonuria
Molecular Genetics and Metabolism, 2019 To study the efficacy of low dosage of nitisinone in alkaptonuria.Alkaptonuria (AKU) is a rare genetic disease which induces deposition of homogentisic acid (HGA) in connective inducing premature arthritis, lithiasis, cardiac valve disease, fractures, muscle and tendon ruptures and osteopenia.
Sloboda, Natacha +9 more
openaire +2 more sources
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone [PDF]
The Journal of Pediatrics, 2014 To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted diet.We performed a cross-sectional study to establish cognitive functioning in children with tyrosinemia type I compared with their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales.
Bendadi, Fatiha +8 more
openaire +3 more sources
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
Orphan Drugs: Research and Reviews, 2017 A Cigdem Aktuglu-Zeybek, Tanyel Zubarioglu Department of Pediatrics, Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, Istanbul, Turkey Abstract: Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]cyclohexane-1,3-dione), an effective triketone herbicide, is a potent inhibitor of
Zeybek,Cigdem Aktuglu, Zubarioglu,Tanyel
openaire +1 more source
Cell Proliferation, Volume 58, Issue 3, March 2025.Primary porcine hepatocytes (PPHs) are important for hepatic research and clinical applications. With 10× multiome, we studied their dynamics during dedifferentiation and identified a series of key regulators of this process. Based on these findings, we further formulated a chemical combination that effectively prevents PPH dedifferentiation.
Jie Hao +14 more
wiley +1 more source
Pharmaceutical Crops: An Overview [PDF]
, 2010 Pharmaceutical crops is an ambiguous term used by biologists and chemists for different categories of plants. We define pharmaceutical crops as those cultivated species that are used for extraction or preparation of therapeutic substances such as active ...
Antoun, Mikhail +5 more
core +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source