- ►oxfordjournals.org JM Rodriguez, DE Timm, GP Titus, D Beltran- … - Human Molecular Genetics, 2000 - Oxford Univ Press Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first
human disease to be interpreted as a Mendelian trait by Garrod and Bateson at
the beginning of last century. AKU results from impaired function of ... Cited by 30 - Related articles - BL Direct - All 6 versions
- ►nih.gov A Zatková, DBV de Bernabé, H Poláková, M … - The American Journal of Human Genetics, 2000 - Elsevier Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency
of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence
(1:100,000–250,000) in most ethnic groups. One notable exception is in ... Cited by 14 - Related articles - BL Direct - All 9 versions
- ►bmj.com [PDF] B PORFIRIO, I CHIARELLI, C GRAZIANO, … - British Medical Journal, 2000 - jmg.bmj.com Page 1. doi:10.1136/jmg.37.4.309 2000;37;309-312 J. Med. Genet. BELTRÁN-VALERO
DE BERNABÉ and SANTIAGO RODRÍGUEZ DE CÓRDOBA ALESSANDRO ... Cited by 13 - Related articles - BL Direct - All 5 versions
CS Söker, R Cevik, A Aksünger, K Unlü, S … - Acta Ophthalmologica Scandinavica, 2002 - ncbi.nlm.nih.gov 1: Acta Ophthalmol Scand. 2002 Jun;80(3):340-2. Ocular ochronosis: A case report
and clinical findings. Söker Cakmak S, Cevik R, Aksünger A, Unlü K, Ava S. ... Cited by 8 - Related articles - BL Direct - All 3 versions
- ►bmj.com [PDF] A Zatkova, H Polakova, L Micutkova, M Zvarik … - British Medical Journal, 2000 - jmg.bmj.com E DITOR —Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is a
common autosomal dominant predisposition to colorectal cancer. Clinical
diagnostic fea- tures of sporadic and HNPCC associated colorectal cancer do ... Cited by 10 - Related articles - BL Direct - All 5 versions
A Zatkova, A Chmelikova, H Polakova, E … - Clinical genetics, 2003 - interscience.wiley.com Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency
of homogentisate 1,2 dioxygenase (HGO) activity. The disease is characterized by
homogentisic aciduria, ochronosis and ochronotic arthritis. AKU shows a ... Cited by 9 - Related articles - BL Direct - All 5 versions
G Bálint, B Szebenyi - Best Practice & Research Clinical Rheumatology, 2000 - Elsevier Osteoarthritis is the most common joint disease, causing considerable disability
and impairment of quality of life. Hereditary osteochondrodysplasias and some
inborn errors of metabolism may mimic or cause premature osteoarthritis. ... Cited by 4 - Related articles - BL Direct - All 8 versions
PC Barrios, RL Font - Archives of ophthalmology, 2004 - archopht.highwire.org Alkaptonuria (ochronosis) is an inherited aminoacidopathy of the
phenylalanine/tyrosine metabolism (Figure 1). Phenylalanine is an essential
amino acid that is irreversibly hydroxylated to tyrosine by homogentisic ... Cited by 4 - Related articles - BL Direct - All 5 versions
A Ladjouze-Rezig, S Rodriguez de Cordoba, … - Revue du rhumatisme, 2006 - Elsevier Résultats. – Le diagnostic d'alcaptonurie a toujours été confirmé par le
dosage de l'acide homogentisique urinaire. Quatre mutations du gène de
l'homogentisate 1,2-dioxygénase ont été mises en évidence : une ... Cited by 6 - Related articles - All 4 versions
A Dogra, GS Bajwa, N Bajwa, S Khurana - Indian journal of dermatology, venereology and … - ncbi.nlm.nih.gov A case of alkaptonuria, a rare autosomal recessive metabolic disorder is being
reported. The patient presented with passage of dark coloured urine, cutaneous
and scleral pigmentation and joint pains. The diagnosis was confirmed by ... Cited by 2 - Related articles - BL Direct - All 6 versions
