Items tagged “metabolic disorder”
6 results found
Case
Mucopolysaccharidosis
Published
10 May 2013
41% complete
X-ray
Case
Maple syrup urine disease
Published
08 Jan 2015
76% complete
MRI
CT
Case
Maple syrup urine disease
Published
12 Jul 2015
80% complete
MRI
Case
Maple syrup urine disease
Published
28 Apr 2019
80% complete
CT
Case
Maple syrup urine disease
Published
02 Aug 2019
92% complete
MRI
Article
Tyrosinaemia type 1
Tyrosinaemia type 1 is an autosomal recessive disorder of metabolic origin. Progressive renal tubular defects and hepatocellular carcinoma are the primary manifestations.
Epidemiology
More common in Turkey, India and Europe.
Clinical presentation
Presentation is typically in the first few mo...