Results 111 to 120 of about 1,641 (186)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Molecular Genetics and Metabolism Reports, 2018
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700).
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell   +9 more
doaj   +1 more source

Sequential tendon ruptures in ochronosis: case report [PDF]

, 2017
Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in
Kumar, E. G. Mohan, Kumar, G. M. Yathisha   +1 more
core   +2 more sources

Recommendations for the management of tyrosinaemia type 1

Orphanet Journal of Rare Diseases, 2013
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy.
de Laet Corinne, Dionisi-Vici Carlo, Leonard James V, McKiernan Patrick, Mitchell Grant, Monti Lidia, de Baulny Hélène Ogier, Pintos-Morell Guillem, Spiekerkötter Ute   +8 more
doaj   +1 more source

Alkaptonuria: Current Perspectives

The Application of Clinical Genetics, 2020
Andrea Zatkova,1 Lakshminarayan Ranganath,2 Ludevit Kadasi1,3 1Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia; 2National Alkaptonuria Centre ...
Zatkova A, Ranganath L, Kadasi L
doaj  

Suitability of nitisinone for alkaptonuria [PDF]

The Lancet Diabetes & Endocrinology, 2020
openaire   +3 more sources

Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders [PDF]

, 2016
Dillon, Jane P, Gallagher, James A, Ranganath, Lakshminarayan R, Sireau, Nicolas, Timmis, Oliver   +4 more
core   +1 more source

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

Metabolomic changes associated with acquired resistance to Ixodes scapularis

Ticks and Tick-Borne Diseases
Guinea 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, Jaqueline Matias, Xiaotian Tang, Balasubramanian Cibichakravarthy, Kathleen DePonte, Ming-Jie Wu, Erol Fikrig   +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, Katarzyna Kuśmierska, Marcin Biernacki, Anna Jakubowska-Winecka, Marta Biernacka, Monika Pohorecka, Jolanta Sykut-Cegielska   +6 more
doaj  

The Tyrosinemia Type I [PDF]

, 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