Results 21 to 30 of about 1,641 (186)

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status. [PDF]

J Inherit Metab Dis
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Flaharty KA, Chandrasekar V, Castillo IJ, Duong D, Ferreira CR, Ledgister Hanchard S, Hu P, Waikel RL, Rossignol F, Introne WJ, Solomon BD.   +10 more
europepmc   +2 more sources

Nitisinone: a review [PDF]

Orphan Drugs: Research and Reviews, 2017
Cigdem Aktuglu Zeybek, Tanyel Zubarioglu
core   +3 more sources

Clinical Images: Stubborn low back pain under the eyes. [PDF]

ACR Open Rheumatol
ACR Open Rheumatology, Volume 7, Issue 7, July 2025.
Gil W, Soubrier M.
europepmc   +2 more sources

Nitisinone causes acquired tyrosinosis in alkaptonuria [PDF]

Journal of Inherited Metabolic Disease, 2020
AbstractFor over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying ...
Milad Khedr, Maggie S. Cooper, Andrew T. Hughes, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Jonathan C. Jarvis, Richard Fitzgerald, Louise Markinson, Eftychia‐Eirini Psarelli, Parisa Ghane, Nicolaas E. P. Deutz, James A. Gallagher, Lakshminarayan R. Ranganath   +14 more
openaire   +2 more sources

Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review [PDF]

Journal of Clinical and Diagnostic Research, 2018
We report a case of nitisinone-induced keratopathy in a 52-year-old male patient with Alkaptonuria (AKU) disease in Jordan. The patient presented with slight drop of left eye vision for the last four weeks, associated with a foreign body sensation in his
Khalid Mousa Al Zubi, Mohammed Salem Alsbou, Mahmoud Hussein Alkhasawneh, Hani Mosleh Al-Shagahin   +3 more
doaj   +1 more source

Nutritional interventions for patients with alkaptonuria: A minireview

Endocrine Regulations, 2023
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard, Zatkova Andrea, Lukacova Olga, Sedlakova Jana, Zanova Elizabeth, Vlcek Miroslav, Penesova Adela, Radikova Zofia, Havranova Andrea, Ranganath Lakshminarayan   +9 more
doaj   +1 more source

Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria

Metabolites, 2022
Background: Nitisinone-induced hypertyrosinaemia is well documented in Alkaptonuria (AKU), and there is uncertainty over whether it may contribute to a decline in cognitive function and/or mood by altering neurotransmitter metabolism.
Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Anna M. Milan, James A. Gallagher, Jonathan C. Jarvis, Lakshminarayan R. Ranganath   +6 more
doaj   +1 more source

Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression

JIMD Reports, 2022
Little is documented on whether nitisinone‐induced hypertyrosinaemia alters cognitive functioning or leads to worsening depression in alkaptonuria (AKU). Wechsler Adult Intelligence Scale‐IV (WAIS‐IV) and Beck Depression Inventory‐II (BDI‐II) assessments
Andrew S. Davison, Gin Hughes, Joanne A. Harrold, Pam Clarke, Rebecca Griffin, Lakshminarayan R. Ranganath   +5 more
doaj   +1 more source

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

JIMD Reports, 2022
Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012.
Mohammad S. Z. Ahmad, Mahmoud Ahmed, Milad Khedr, Alfredo Borgia, Andrea Madden, Lakshminarayan R. Ranganath, Stephen Kaye   +6 more
doaj   +1 more source

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]

, 2017
The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco, Bocai, Nadia Irina, Castaño, Eduardo Miguel, Ceriani, Maria Fernanda, Marcora, Maria Silvina, Morelli, Laura   +5 more
core   +1 more source