Early clinical signs and treatment of Menkes disease

[1]  Kiyomi Ito,et al.  Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease , 2021, Pharmaceutical Research.

[2]  E. Mauceli,et al.  Targeted next generation sequencing for newborn screening of Menkes disease , 2020, Molecular genetics and metabolism reports.

[3]  H. Kodama,et al.  ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis , 2019, Pediatrics international : official journal of the Japan Pediatric Society.

[4]  Z. Tümer,et al.  A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment , 2017, Clinical genetics.

[5]  S. Kaler ATP7A-Related Copper Transport Disorders , 2016 .

[6]  L. Møller,et al.  Mottled Mice and Non-Mammalian Models of Menkes Disease , 2015, Front. Mol. Neurosci..

[7]  Y. Takeshima,et al.  Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease , 2015, Brain and Development.

[8]  S. Sartori,et al.  Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients , 2014, Epilepsy Research.

[9]  Yasuyoshi Watanabe,et al.  PET Imaging Analysis with 64Cu in Disulfiram Treatment for Aberrant Copper Biodistribution in Menkes Disease Mouse Model , 2014, The Journal of Nuclear Medicine.

[10]  H. Kodama,et al.  Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome. , 2012, Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements.

[11]  H. Kodama,et al.  Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease. , 2012, Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements.

[12]  H. Kodama,et al.  Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment , 2012, Current drug metabolism.

[13]  S. Kaler,et al.  Molecular correlates of epilepsy in early diagnosed and treated Menkes disease , 2010, Journal of Inherited Metabolic Disease.

[14]  S. Kaler,et al.  Translational read‐through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease , 2009, Annals of neurology.

[15]  D. Goldstein,et al.  Neonatal diagnosis and treatment of Menkes disease. , 2008, The New England journal of medicine.

[16]  H. Kodama,et al.  Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease , 2005, Journal of Inherited Metabolic Disease.

[17]  Z. Tümer,et al.  Identification and analysis of 21 novel disease‐causing amino acid substitutions in the conserved part of ATP7A , 2005, Human mutation.

[18]  H. Ozawa,et al.  A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis , 2005, Journal of Inherited Metabolic Disease.

[19]  H. Kodama,et al.  Screening for Menkes disease using the urine HVA/VMA ratio , 2005, Journal of Inherited Metabolic Disease.

[20]  H. Ushijima,et al.  Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement , 2002, Brain and Development.

[21]  H. Kodama,et al.  Molecular genetics and pathophysiology of Menkes disease , 1999, Pediatrics international : official journal of the Japan Pediatric Society.

[22]  H. Kodama,et al.  Clinical manifestations and treatment of Menkes disease and its variants , 1999, Pediatrics international : official journal of the Japan Pediatric Society.

[23]  Z. Tümer,et al.  Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. , 1998, American journal of medical genetics.

[24]  S. Kaler Menkes disease and occipital horn syndrome. , 1995, Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes.

[25]  J. Clarke,et al.  Copper-histidine therapy for Menkes disease. , 1993, The Journal of pediatrics.

[26]  H. Kodama Recent developments in Menkes disease , 1993, Journal of Inherited Metabolic Disease.

[27]  H. Kodama,et al.  Genetic expression of Menkes disease in cultured astrocytes of the macular mouse , 1991, Journal of Inherited Metabolic Disease.

[28]  A. Noma,et al.  Sensitive, direct colorimetric assay for copper in serum. , 1989, Clinical chemistry.

[29]  B. J. Stevens,et al.  Menkes' kinky-hair syndrome. , 1972, Lancet.

[30]  Oliver H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.

[31]  L. Møller,et al.  Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time. , 2019, Journal of inorganic biochemistry.

[32]  F. Vairo,et al.  A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. , 2019, Molecular genetics and metabolism.

[33]  S. Kaler,et al.  Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy. , 2013, Advances in pharmacology.

[34]  Z. Tümer,et al.  Menkes disease , 2010, European Journal of Human Genetics.

[35]  Z. Tümer,et al.  Early copper-histidine treatment for Menkes disease , 1996, Nature Genetics.

[36]  Thomas W. Glover,et al.  Isolation of a partial candidate gene for Menkes disease by positional cloning , 1993, Nature Genetics.

[37]  Anthony P. Monaco,et al.  Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein , 1993, Nature Genetics.

[38]  S. Packman,et al.  Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase , 1993, Nature Genetics.