Concepedia

A proposed nosology of inborn errors of metabolism

Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley, Nenad Blau

Genetics in Medicine · 2018 · 270 citations · 28 references

DOIFull text

Open access

Concepts

References

28

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna Amberger, Carol Bocchini, François Schiettecatte et al. · Nucleic Acids Research · 2014 · 2.7K citations · Full text

, , +11

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase

Mary Selak, Sean M. Armour, Elaine D. MacKenzie et al. · Cancer Cell · 2005 · 2.1K citations · Full text

, , +14

THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.

ArchibaldE. Garrod · The Lancet · 1902 · 784 citations

, , +3

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 565 citations

, , +15

The Croonian Lectures ON INBORN ERRORS OF METABOLISM.

ArchibaldE. Garrod · The Lancet · 1908 · 345 citations

, , +8