Results 101 to 110 of about 4,051 (207)

Interpreting sources of variation in clinical gait analysis: a case study [PDF]

Objective: To illustrate and discuss sources of gait deviations (experimental, genuine and intentional) during a gait analysis and how these deviations inform clinical decision making.
Barton, GJ, King, SL, Ranganath, LR
core   +1 more source

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty

Molecular Genetics and Metabolism Reports
Background Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients. Patients and methods Patients attending the
L. Ranganath, M. Khedr, B. Norman, J. Hughes, R. Imrich, J. Arnoux, B. Olsson, M. Rudebeck, J. Gallagher, G. Bou-Gharios, L. Ranganath   +10 more
semanticscholar   +1 more source

Secondary osteoarthritis due to alkaptonuria: a case report [PDF]

Journal of Research in Applied and Basic Medical Sciences
Background & Aims: Alkaptonuria is a rare autosomal recessive genetic disorder caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid.
Sabina Lois, Aruna Veeruswamy, Kamalanathan Kulandaivelu, Mohan Prasad Muthusamy, Yee Tun Oo   +4 more
doaj  

Endogenous ochronosis with keratoelastoidosis marginalis

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2019
Endogenous ochronosis is a manifestation of alkaptonuria, a rare metabolic disease due to homogentisic acid oxidase deficiency. Darkened urine and arthropathy are the other two components that complete the triad of alkaptonuria. Pigmentation of skin, the
R Mythreyi, Adikrishnan Swaminathan, Anuradha Priyadarshini, Sudha Rangarajan, S Murugan   +4 more
doaj   +1 more source

Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation

JIMD Reports, 2021
Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase (HGD) deficiency. This study aimed to determine if HGD and other enzymes related to tyrosine metabolism are associated with the location of ochronotic pigment. Liver, kidney, skin, bone, brain,
Peter J. M. Wilson, Lakshminarayan R. Ranganath, George Bou‐Gharios, James A. Gallagher, Juliette H. Hughes   +4 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Evaluation of a casein glycomacropeptide‐based protein substitute, in the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria: A prospective open‐label study

Journal of Human Nutrition and Dietetics, Volume 37, Issue 6, Page 1496-1504, December 2024.
A low tyrosine casein glycomacropeptide‐based protein substitute offers an alternative choice to amino acid–based protein substitutes for the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria (AKU) in terms of adherence, gastrointestinal tolerance and metabolic control. Abstract Background 2‐(2‐Nitro‐4‐trifluoromethylbenzoyl)
Shirley Judd, Ali Hutton, Grace Thomas, Heather Hill   +3 more
wiley   +1 more source

Human disease locus discovery and mapping to molecular pathways through phylogenetic profiling [PDF]

, 2013
Genes with common profiles of the presence and absence in disparate genomes tend to function in the same pathway. By mapping all human genes into about 1000 clusters of genes with similar patterns of conservation across eukaryotic phylogeny, we ...
Fukuda, Tomoyuki, Golan, Tamar, Hernández-Hernández, Abrahan, Kouznetsova, Anna, Levy, Carmit, Lilienthal, Ingrid, Liu, Jian-Guo, Messer, Arielle R, Ruvkun, Gary, Tabach, Yuval   +9 more
core   +2 more sources

What can pediatricians learn from adult inherited metabolic diseases?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 876-884, September 2024.
Abstract The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels.
Fanny Mochel
wiley   +1 more source

Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 664-673, July 2024.
Abstract Altered activity of specific enzymes in phenylalanine‐tyrosine (phe‐tyr) metabolism results in incomplete breakdown of various metabolite substrates in this pathway. Increased biofluid concentration and tissue accumulation of the phe‐tyr pathway metabolite homogentisic acid (HGA) is central to pathophysiology in the inherited disorder ...
B. P. Norman, H. Sutherland, P. J. M. Wilson, D. A. Rutland, A. M. Milan, A. T. Hughes, A. S. Davison, M. Khedr, J. C. Jarvis, J. A. Gallagher, G. Bou‐Gharios, L. R. Ranganath   +11 more
wiley   +1 more source