Results 61 to 70 of about 1,418 (198)

1154 MENKES KINKY HAIR SYNDROME: SERIAL CT SCAN FINDINGS IN THREE CASES WITH PATHOLOGICAL CORRELATION IN ONE CASE [PDF]

, 1978
Alan R. Seay, Patrick F. Bray, Douglas Wing, Joel A. Thompson, James F. Bale, Darryl M. Williams   +5 more
openalex   +1 more source

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome. [PDF]

, 1987
Seymour Packman, R D Palmiter, Michael Karin, Christine M.B. O'Toole   +3 more
openalex   +1 more source

Menkes' Kinky Hair Syndrome: Studies of Copper Metabolism and Long Term Copper Therapy [PDF]

, 1977
Darryl M. Williams, Curtis L. Atkin, David B. Frens, Patrick F. Bray   +3 more
openalex   +1 more source

The differential effects of cuprizone on mouse brain and liver metabolism, 1987 [PDF]

The oral administration of cuprizone to pregnant mice results in resorption of the fetus and a decline in the live births. When cuprizone is fed as a 0.5% of the diet to weanling mice, it induces status spongiosus in the brain and giant mitochondria in ...

core   +1 more source

Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review [PDF]

, 2010
The complication of Menkes disease (MD) and gastroesophageal reflux disease (GERD) is extremely rare. This report describes the very rare case of a one-year-old boy with MD complicated with GERD, and the successful surgical treatment of GERD.
Fumiaki Sasaki, Hisayuki Miyagi, Mitsuru Kubota, Satoru Todo, Shohei Honda, Tadao Okada   +5 more
core   +1 more source

Menke's kinky hair syndrome--a rare medical condition.

JPMA. The Journal of the Pakistan Medical Association, 2005
The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke's disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months.
Yaseer, Al-Bitar, , Azam-Jah-Samdani, Tania, Azam   +2 more
openaire   +1 more source

Presentación de un caso de Síndrome de Menkes [PDF]

, 2015
En este trabajo se presenta un caso del paciente con diagnóstico de enfermedad de Menkes, perteneciente al municipio Colombia de la provincia Las Tunas.
Orive Rodríguez, Nora, Rodríguez Pérez, Yanelys, Rodríguez Sánchez, Carlos Alberto   +2 more
core  

Treatment of Hypocupreinemia and Hypoceruloplasminemia-Menkes Kinky Hair Syndrome-with Intravenous Copper Acetate Infusion

, 1979
Akihiro Hara, Tsugutoshi Aoki
openalex   +2 more sources

Expression and localization of Menkes and Wilson copper transporting ATPases in human placenta

, 2004
Ackland, Ackland, Aldred, Buiakova, Bull, Camakaris, Casey, Chelly, Danks, Danks, Danks, Danzeisen, Gitlin, Harris, Harris, Hein, Horn, Linder, Mann, McArdle, Menkes, Mercer, Michalczyk, Nandakumaran, Oga, Qian, Qian, Rauch, Roelofsen, Royce, Schaefer, Schaefer, Tanzi, Theophilos, Vulpe, Yamaguchi   +35 more
core   +1 more source

Retropseudogene insertion generated through retrotransposition in the <i>ATP7A</i> gene results in premature stop codons and a case of Menkes disease. [PDF]

Front Neurol
Kou M, Ren B, Xing M, Chen L, Xu X.
europepmc   +1 more source