Results 111 to 120 of about 5,184,226 (184)

Copper-regulated trafficking of the Menkes disease copper ATPase associated with formation of a phosphorylated catalytic intermediate

, 2002
Copper-regulated trafficking of the Menkes disease copper ATPase associated with formation of a phosphorylated catalytic ...
J Camakaris (13278537), M Cater (13694599), R Llanos (14447568), I Voskoboinik (2570842), D Strausak (13279935), Julian Mercer (13076475), M Petris (13293396), BE Kim (14535767), K Smith (7711202)   +8 more
core  

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease. [PDF]

Genes (Basel), 2021
Martinez-Fierro ML, Cabral-Pacheco GA, Garza-Veloz I, Acuña-Quiñones J, Martinez-de-Villarreal LE, Ibarra-Ramirez M, Beuten J, Sanchez-Guerrero SE, Villarreal-Martinez L, Delgado-Enciso I, Rodriguez-Sanchez IP, Zuñiga-Ramirez VZ, Cardenas-Vargas E, Romero-Diaz V.   +13 more
europepmc   +1 more source

Menkes Disease

Pediatric Oncall, 2016
Bonny Baracho, Sharad Agarkhedkar, Geeta Karambelkar, Shraddha Salunkhe   +3 more
openaire   +2 more sources

Restoring brain functions in the Mo-blo mouse model of Menkes disease with copper nanoclusters. [PDF]

Sci Adv
Malardé A, Alberto JM, Creusot B, Brice L, Paoli J, Julien A, Umoret R, Renard P, Pourié G, Sartelet H, Arnoux P, Barbault F, Brémond E, Jung-Rodriguez E, Courty A, Walls M, Tizei L, Madebène B, Derat E, Tremblay B, Ouadi A, Brasse D, Coelho D, Wiedemann A, Meyre D, Clarot I, Feillet F, Boudier A.   +27 more
europepmc   +1 more source

Menkes disease: A case report Menkes hastaliǧi: Bir vaka takdimi

, 2008
Menkes disease is a rare progressive neurodegenerative disorder inherited as an X-linked recessive trait. Clinical findings occur as a copper deficiency due to defect in copper absorption and transport. We present a 6-month-old boy with poor head control
Ürer, Selim, YARAR, COŞKUN, Aydoǧdu, Sultan, Yakut, Ayten, Karataş, Zehra   +4 more
core  

Prolonged survival in Menkes disease with a novel <i>ATP7A</i> variant: A case report. [PDF]

World J Clin Pediatr
Hadi Y, Khawaja N, Ben Turkia H, Nasef M, Baili S.   +4 more
europepmc   +1 more source

Copper-histidine therapy: a targeted metabolic intervention for Menkes disease. [PDF]

Ann Med Surg (Lond)
Batool A, Mahmood H, Awan A, Saeed MZ, Qureshi AA, Qamar MA.   +5 more
europepmc   +1 more source

Case Report - Menkes Disease: Report of Two Cases

, 2008
Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair ...
Barzegar, Mohammad, Shoja, Mohammad ali Mohajel, Fayyazie, Afshin, Gasemie, Bobollah   +3 more
core  

Menkes Disease [PDF]

, 2019
openaire   +2 more sources

"A new era in Menkes disease management: the disease-modifying impact of Zycubo (copper histidinate)". [PDF]

Ann Med Surg (Lond)
Malik FS, Abdullah T, Imtiaz A, Iftikhar F, Fatima M, Ahmad HN.   +5 more
europepmc   +1 more source