Results 141 to 150 of about 2,978 (184)

Alcaptonuria. [PDF]

Intern Med
Kosegawa M, Nakano Y, Sakamoto Y, Nishizawa Y.   +3 more
europepmc   +1 more source

Comment on: Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]

PLoS Negl Trop Dis
Hawkins K, Haines LR, Acosta-Serrano Á.
europepmc   +1 more source

Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis. [PDF]

BMJ Case Rep
Gundersen AD, Hornemann Borg M, Løkke A, Hilberg O.   +3 more
europepmc   +1 more source

First Documented Hip Replacement in a Palestinian Patient with Ochronotic Alkaptonuria Arthropathy: A Case Report. [PDF]

J Orthop Case Rep
Shalalfa S, Shalalfa N, Azarabadi JM, Barakat AN.   +3 more
europepmc   +1 more source

Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye. [PDF]

BMC Health Serv Res
Yeşildal M, Erişen MA, Eşgi M.
europepmc   +1 more source

ALKAPTONURIA.

The Ceylon medical journal, 1996
F V, EDIRISINGHE, S N, TALWATTE, P, WEERASINGHE   +2 more
openaire   +1 more source

Alkaptonuria

Nature Reviews Disease Primers
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective ...
Bernardini, Giulia, Braconi, Daniela, Zatkova, Andrea, Sireau, Nick, Kujawa, Mariusz J., Introne, Wendy J., Spiga, Ottavia, Geminiani, Michela, Gallagher, James A., Ranganath, Lakshminarayan R., Santucci, Annalisa   +10 more
exaly   +12 more sources

Alkaptonuria: A Case Report

The Journal of Dermatology, 2001
AbstractAlkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons.
Erdem, T, Cetinkaya, R, Selcuk, Y, Karakuzu, A, Odabas, AR   +4 more
openaire   +4 more sources

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Alkaptonuria

New England Journal of Medicine, 2003
Enrico Selvi
exaly   +3 more sources