-
Pentosuria is a
condition where the
sugar xylitol, a pentose,
presents in the
urine in
unusually high concentrations. It was
characterized as an inborn...
-
patients with
pentosuria, due to a
deficiency in L-xylulose reductase.
Since L-xylulose is a
reducing sugar like D-glucose,
pentosuria patients have been...
-
agenesis Penoscrotal transposition Penta X
syndrome Pentalogy of
Cantrell Pentosuria Penttinen–Aula
syndrome PEPCK 1
deficiency PEPCK 2
deficiency PEPCK deficiency...
- for the
presence of
pentoses originally developed for the
diagnosis of
Pentosuria. It is
named after Manfred Bial, a
German physician. The
components include...
-
inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and
pentosuria.
Archibald E. Garrod.
Inborn Errors of Metabolism: The
Croonian Lectures...
-
following year.
Garrod expanded his
metabolic studies to
cover cystinuria,
pentosuria, and albinism.
These three inborn errors,
along with
alkaptonuria are...
- monoxide, and indole. In 1892 (with Jastrowitz) he was the
first to
describe pentosuria. He was the
author of Practi**** der
physiologischen und pathologischen...
- 2-oxidoreductase (L-xylulose-forming). A
deficiency is
responsible for
pentosuria. The
insufficiency of L-xylulose
reductase activity causes an
inborn error...
-
laboratory of
Henry Hallett Dale. His
research subjects at this time
included pentosuria, glycosuria,
xylose metabolism, and
vitamin D. Upon his
return to the...
- Pelizaeus–Merzbacher disease; 312080; PLP1
Pendred syndrome; 274600; SLC26A4
Pentosuria; 260800; DCXR
Periodic fever, familial; 142680; TNFRSF1A Periodontitis...
