Results 51 to 60 of about 1,688 (193)
Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism [PDF]
, 2014 Purpose.Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in ...
Anderson, Jennifer L. +16 more
core +2 more sources
, 2022 Abstract Introduction: In tyrosinemia type I (HT1) accumulation of succinylacetone causes severe hepatic and renal dysfunction and hepatocellular carcinoma, and the only drug used in the treatment is nitisinone (NTBC). While succinylacetone measurement from dried blood spots (DBS) is used in the diagnosis of patients, simultaneous measurements ...
Tümer, Leyla +5 more
openaire +2 more sources
Tyrosinemia type I: an unusual case presentation
Journal of Biochemical and Clinical Genetics, 2022 Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj +1 more source
Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]
, 2018 We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James +8 more
core +3 more sources
JIMD Reports, 2022 Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine (TYR) metabolism which results in a deficiency of the enzyme homogentisate 1,2‐dioxygenase activity.
Andrew T. Hughes +4 more
doaj +1 more source
First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco +3 more
doaj +1 more source
Imaging and CSF analyses effectively distinguish CJD from its mimics [PDF]
, 2017 OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the
Collinge, J +4 more
core +1 more source
Increased prevalence of Parkinson's disease in alkaptonuria
JIMD Reports, 2023 Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD).
Lakshminarayan Ranganath +8 more
doaj +1 more source
Plant derived substances with anti-cancer activity: from folklore to practice [PDF]
, 2015 Plants have had an essential role in the folklore of ancient cultures. In addition to the use as food and spices, plants have also been utilized as medicines for over 5000 years.
Hinanit Koltai +2 more
core +3 more sources
Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan +3 more
wiley +1 more source