Concepedia

Urological Problems in Patients with Menkes Disease

Mi Young Kim, Ji Hyun Kim, Myung Hyun Cho, Young Hun Choi, Seong Heon Kim, Young Jae Im, Kwanjin Park, Hee Gyung Kang, Jong‐Hee Chae, Hae Il Cheong

Journal of Korean Medical Science · 2018 · 25 citations · 20 references

DOIFull text

Open access

Abstract

Urologic problems occurred frequently in MD, with bladder diverticula being the most common. Therefore, urological imaging studies and appropriate management of urological complications, which may prevent or reduce the development of urinary tract infections and renal parenchymal damage, are required in all patients with MD.

References

20

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

, , +9

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

John H. Menkes, Milton Alter, Gerd Klaus Steigleder et al. · PubMed · 1962 · 854 citations

, , +23

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Jamel Chelly, Zeynep Tümer, T. Tønnesen et al. · Nature Genetics · 1993 · 726 citations

, , +13

Isolation of a partial candidate gene for Menkes disease by positional cloning

Julian F. B. Mercer, Janie Livingston, Bryan Hall et al. · Nature Genetics · 1993 · 696 citations

, , +11

MENKES' KINKY-HAIR SYNDROME

D. M. Danks, P E Campbell, J A Walker‐Smith et al. · The Lancet · 1972 · 422 citations

, , +2