Results 61 to 70 of about 1,641 (186)
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria [PDF]
Molecular Genetics and Metabolism, 2011 Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization.
Wendy J, Introne +12 more
openaire +2 more sources
Data in Brief, 2018 Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin +26 more
doaj +1 more source
Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria [PDF]
, 2022 Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation.
Bernini A. +7 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source
Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
JIMD Reports, 2022 Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the ...
Harriet E. O. Cant +7 more
doaj +1 more source
Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]
, 2019 It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad +1 more
core +2 more sources
Clinical and Translational Science, Volume 18, Issue 10, October 2025.ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl +6 more
wiley +1 more source
Cancer Medicine, 2022 Background Hepatocellular carcinoma (HCC) patient‐derived xenograft (PDX) models hold potential to advance knowledge in HCC biology to help improve systemic therapies. Beside hepatitis B virus‐associated tumors, HCC is poorly established in PDX.
Chenhui Zou +17 more
doaj +1 more source
Corneal depositions in tyrosinaemia type I during treatment with Nitisinone [PDF]
BMJ Case Reports, 2012 We present a 17-year-old boy, diagnosed with tyrosinaemia type I at an age of 7 months, with new complaints of severe intermittent photophobia and burning eyes. His tyrosinaemia type I is treated with nitisinone and a protein-restricted diet. Dietary compliance is low since he entered puberty.
Robert P L, Wisse +3 more
openaire +2 more sources
Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers +40 more
wiley +1 more source