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ArticlesPeer ReviewedFull Text
Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease
Author / Creator:Yamagishi, Yoshiaki ; Kudo, Toshiyuki ; Oyumi, Masafumi ; Sakamoto, Yusuke ; Takahashi, Kazuki ; Akashi, Taiki ; Kobayashi, Shohei ; Kawakami, Takeaki ; Goda, Hitomi ; Sato, Yasuhiro ; Mimaki, Masakazu ; Kodama, Hiroko ; Munakata, Mitsutoshi ; Makino, Kosho ; Takahashi, Hideyo ; Fukami, Toshiro ; Ito, Kiyomi
Publisher:New York: Springer US
Journal title:Pharmaceutical research, 2021-08, Vol.38 (8), p.1335-1344
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ArticlesPeer ReviewedFull Text
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model
Author / Creator:Hoshina, Takao ; Nozaki, Satoshi ; Hamazaki, Takashi ; Kudo, Satoshi ; Nakatani, Yuka ; Kodama, Hiroko ; Shintaku, Haruo ; Watanabe, Yasuyoshi
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1285
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Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
Author / Creator:Panichsillaphakit, Ekkarit ; Kwanbunbumpen, Tanisa ; Chomtho, Sirinuch ; Visuthranukul, Chonnikant
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2022-04, Vol.15 (4), p.e247937
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ArticlesPeer ReviewedFull Text
EPR spectroscopy of a clinically active (1:2) copper(II)-histidine complex used in the treatment of Menkes disease: a Fourier transform analysis of a fluid CW-EPR spectrum
Author / Creator:Gala, Lukas ; Lawson, Michael ; Jomova, Klaudia ; Zelenicky, Lubomir ; Congradyova, Andrea ; Mazur, Milan ; Valko, Marian
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2014-01, Vol.19 (1), p.980-991
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Neonatal Diagnosis and Treatment of Menkes Disease
Author / Creator:Kaler, Stephen G ; Holmes, Courtney S ; Goldstein, David S ; Tang, Jingrong ; Godwin, Sarah C ; Donsante, Anthony ; Liew, Clarissa J ; Sato, Susumu ; Patronas, Nicholas
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2008-02, Vol.358 (6), p.605-614
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ArticlesPeer ReviewedFull Text
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients
Author / Creator:Kim, Ja Hye ; Lee, Beom Hee ; Kim, Yoo-Mi ; Choi, Jin-Ho ; Kim, Gu-Hwan ; Cheon, Chong Kun ; Yoo, Han-Wook
Publisher:Boston: Springer US
Journal title:Metabolic brain disease, 2015-02, Vol.30 (1), p.75-81
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ArticlesPeer ReviewedFull Text
Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)
Author / Creator:Lenartowicz, Małgorzata ; Krzeptowski, Wojciech ; Koteja, Paweł ; Chrząścik, Katarzyna ; Møller, Lisbeth Birk
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-07, Vol.7 (7), p.e40400
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Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)
Author / Creator:Woodfin, Taylor ; Stoops, Christine ; Philips, Joseph B. ; Lose, Edward ; Mikhail, Fady M. ; Hurst, Anna
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e829-n/a
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ArticlesPeer ReviewedFull Text
Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice
Author / Creator:Lenartowicz, Małgorzata ; Windak, Renata ; Tylko, Grzegorz ; Kowal, Małgorzata ; Styrna, Józefa
Publisher:New York: New York : Humana Press Inc
Journal title:Biological trace element research, 2010-08, Vol.136 (2), p.204-220
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ArticlesPeer ReviewedFull Text
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
Author / Creator:León-García, Gregorio ; Santana, Alfredo ; Villegas-Sepúlveda, Nicolás ; Pérez-González, Concepción ; Henrríquez-Esquíroz, José M ; de León-García, Carlota ; Wong, Carlos ; Baeza, Isabel
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2012-09, Vol.12 (1), p.150-150, Article 150
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ArticlesPeer ReviewedFull Text
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
Author / Creator:Kim, B-E ; Smith, K ; Petris, M J
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2003-04, Vol.40 (4), p.290-295
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ArticlesPeer ReviewedFull Text
Pamidronate treatment improves bone mineral density in children with Menkes disease
Author / Creator:Kanumakala, S. ; Boneh, A. ; Zacharin, M.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2002-09, Vol.25 (5), p.391-398
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Copper concentration of liver tissue under long‐term copper‐histidine therapy in a patient with Menkes disease
Author / Creator:Kroepfl, T. ; Mair, E. ; Deutsch, J. ; Brunner‐Krainz, M. ; Paschke, E. ; Plecko, B.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.593-593
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ArticlesPeer ReviewedFull Text
Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy
Author / Creator:SASAKI, Goro ; ISHII, Tomohiro ; SATO, Seiji ; HOSHINO, Ken ; MORIKAWA, Yasuhide ; KODAMA, Hiroko ; MATSUO, Nobutake ; TAKAHASHI, Takao ; HASEGAWA, Tomonobu
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2004-12, Vol.163 (12), p.745-746
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ArticlesPeer ReviewedFull Text
Renal function in patients with Menkes disease
Author / Creator:OZAWA, Hiroshi ; KODAMA, Hiroko ; KAWAGUCHI, Haruo ; MOCHIZUKI, Taishi ; KOBAYASHI, Masaaki ; IGARASHI, Takashi
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2003, Vol.162 (1), p.51-52
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ArticlesPeer ReviewedFull Text
Oxidative abnormalities in Menkes disease
Author / Creator:Rizzo, C. ; Bertini, E. ; Piemonte, F. ; Leuzzi, V. ; Sabetta, G. ; Federici, G. ; Luchetti, A. ; Dionisi‐Vici, C.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.349-351
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ArticlesPeer ReviewedFull Text
Menkes' disease: neurophysiological aspects
Author / Creator:Friedman, E ; Harden, A ; Koivikko, M ; Pampiglione, G
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 1978-06, Vol.41 (6), p.505-510
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ArticlesPeer ReviewedFull Text
Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper
Author / Creator:Daish, P ; Wheeler, E M ; Roberts, P F ; Jones, R D
Publisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1978-12, Vol.53 (12), p.956-958
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Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease

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Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model

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Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review

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EPR spectroscopy of a clinically active (1:2) copper(II)-histidine complex used in the treatment of Menkes disease: a Fourier transform analysis of a fluid CW-EPR spectrum

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Neonatal Diagnosis and Treatment of Menkes Disease

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Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

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Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)

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Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)

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Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice

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The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

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A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase

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Pamidronate treatment improves bone mineral density in children with Menkes disease

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Copper concentration of liver tissue under long‐term copper‐histidine therapy in a patient with Menkes disease

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Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

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Renal function in patients with Menkes disease

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Oxidative abnormalities in Menkes disease

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Menkes' disease: neurophysiological aspects

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Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper

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