Results 1 to 10 of about 1,361 (101)
Indian Journal of Dermatology, 2011 A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini +4 more
+8 more sources
Rare Diseases, 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth.
J.A. Gallagher +2 more
openaire +4 more sources
Dermatology Online Journal, 2010 A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis.
Yancovitz, Molly +2 more
+9 more sources
Medical Journal Armed Forces India, 2018 Manish, Thapa, M, Bhatia, V K, Maurya
openaire +4 more sources
Indian journal of dermatology, venereology and leprology, 2007 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 the detection of homogentisic acid in the urine.
A, Dogra +3 more
openaire +1 more source
Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]
Int J Spine SurgSampaio Júnior FAU +11 more
europepmc +1 more source
Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report. [PDF]
CureusBraga R, Teixeira F, Matos C.
europepmc +1 more source
Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient. [PDF]
JACC Case RepSolís Chávez MB +4 more
europepmc +1 more source