Results 111 to 120 of about 1,688 (193)
Studies in alkaptonuria reveal new roles beyond drug clearance for phase I and II biotransformations in tyrosine metabolism [PDF]
Background and Purposealkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of the enzyme homogentisate 1,2-dioxygenase (HGD).
Berry, Neil G +12 more
core +1 more source
Suitability of nitisinone for alkaptonuria [PDF]
The Lancet Diabetes & Endocrinology, 2020 openaire +4 more sources
Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders [PDF]
, 2016 Dillon, Jane P +4 more
core +1 more source
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
Metabolomic changes associated with acquired resistance to Ixodes scapularis
Ticks and Tick-Borne DiseasesGuinea pigs repeatedly exposed to Ixodes scapularis develop acquired resistance to the ticks (ATR). The molecular mechanisms of ATR have not been fully elucidated, and partially involves immune responses to proteins in tick saliva.
Yingjun Cui +6 more
doaj +1 more source
Behavioral and intellectual functioning in patients with tyrosinemia type I [PDF]
Pediatric Endocrinology, Diabetes and Metabolism, 2012 Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients’ cognitive development.
Agnieszka Kowalik +6 more
doaj
The dark side of cartilage: ochronosis unmasked during femoral neck fracture surgery [PDF]
Alkaptonuria is a rare autosomal recessive disorder caused by a deficiency in homogentisic acid oxidase, leading to the accumulation of homogentisic acid in connective tissues.
Bava, Surendar S. +5 more
core +2 more sources
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study [PDF]
, 2021 Spada, Marco
core +1 more source
, 2013 Tyrosinemia type 1 is an autosomal recessive disorder which can be detected as early as possible after birth so that it may be treated or alleviated immediately. If untreated, the disorder can cause dysfunctions of liver, kidney, or neurological disease.
Nelwan, Martin L.
core +1 more source