Results 131 to 140 of about 9,332,063 (205)

MENKES DISEASE: A LITERATURE REVIEW AND CLINICAL CASE

Н. І. Токарчук, T. V. Chekotun, Ludmila Starynets, V. Antonets, L. M. Stanislavchuk   +4 more
openalex   +2 more sources

Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease. [PDF]

J Korean Med Sci, 2019
Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI.   +9 more
europepmc   +1 more source

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease [PDF]

, 2001
Susan L. Dagenais, Ayla N. Adam, Jeffrey W. Innis, Thomas W. Glover   +3 more
openalex   +1 more source

Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report. [PDF]

Medicine (Baltimore), 2018
Peng CH, Hsu CH, Wang NL, Lee HC, Lin SP, Chan WT, Yeung CY, Jiang CB.   +7 more
europepmc   +1 more source

Copper-histidine treatment of Menkes disease [PDF]

, 1994
Adolfo Garnica, Wai‐Yee Chan, Owen M. Rennert   +2 more
openalex   +1 more source

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.

, 1995
Daniel Yuan, Robert S. Stearman, Andrew Dancis, Teresa Dunn, Troy Beeler, Richard D. Klausner   +5 more
openalex   +2 more sources

Two Cases of Menkes Disease Diagnosed with Hair Findings and Novel Mutation

, 2018
Sedat Işıkay, Serkan Kırık
openalex   +1 more source

Menkes disease as a differential diagnosis of child abuse Doença de Menkes como diagnóstico diferencial de abuso de criança

Arquivos de Neuro-Psiquiatria, 2009
Juliana Harumi Arita, Eliete Chiconelli Faria, Mirella Maccarini Peruchi, Jaime Lin, Marcelo Rodrigues Masruha, Luiz Celso Pereira Vilanova   +5 more
doaj   +1 more source

A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.

Pediatrics and Neonatology, 2017
Yi-Jie Lin, Che-Sheng Ho, Chyong-hsin Hsu, Ju-Li Lin, C. Chuang, J. Tsai, N. Chiu, Hsiang-Yu Lin, Shuan-Pei Lin   +8 more
semanticscholar   +1 more source

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? [PDF]

Case Rep Neurol Med, 2015
Tümer Z.
europepmc   +1 more source