Essential Pentosuria Latest Advances

C11orf54 catalyzes L-xylulose formation in human metabolism.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: July 30, 2025

A Feeling for the Human Subject: Margaret Lasker and the Genetic Puzzle of Pentosuria.

Journal: Journal of the history of biology

Published: June 10, 2021

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Journal: American journal of medical genetics. Part A

Published: April 10, 2021

Inborn errors of metabolism in the 21st century: past to present.

Journal: Annals of translational medicine

Published: February 12, 2019

Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme.

Journal: The international journal of biochemistry & cell biology

Published: July 12, 2013

Human DCXR - another 'moonlighting protein' involved in sugar metabolism, carbonyl detoxification, cell adhesion and male fertility?

Journal: Biological reviews of the Cambridge Philosophical Society

Published: July 10, 2013

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: November 02, 2011

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Journal: Journal of inherited metabolic disease

Published: June 26, 2008

Legacies of Garrod's brilliance. One hundred years--and counting.

Journal: Journal of inherited metabolic disease

Published: June 26, 2008

Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics.

Journal: Clinical and investigative medicine. Medecine clinique et experimentale

Published: September 18, 2001

Garrod's foresight; our hindsight.

Journal: Journal of inherited metabolic disease

Published: June 19, 2001