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About 280 results

ALLMedicine™ Menkes Disease Center

Research & Reviews  107 results

Copper
https://emedicine.medscape.com/article/2087780-overview

Jun 21st, 2022 - Reference Range Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum...

Copper
http://emedicine.medscape.com/article/2087780-overview

Jun 21st, 2022 - Reference Range Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum...

Copper
https://emedicine.medscape.com/article/2087780-print

Jun 21st, 2022 - Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum ceruloplasmin i...

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991052
BMJ Case Reports; Panichsillaphakit E, Kwanbunbumpen T et. al.

Apr 9th, 2022 - Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed develop...

Critical Points in the Methodology of Preparing Copper (II) Histidinate Injections and ...
https://doi.org/10.1016/j.xphs.2022.03.015
Journal of Pharmaceutical Sciences; Dwiecki PM, Wróblewska KB et. al.

Mar 29th, 2022 - Copper (II) histidinate injection solution, applied in Menkes disease treatment, is characterized by low stability due to sensitivity to oxidation. The aim of this article was to determine the critical points of the injection preparation procedure...

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Clinicaltrials.gov  4 results

Copper Histidinate Treatment for Menkes Disease
https://clinicaltrials.gov/ct2/show/NCT04074512

Mar 8th, 2022 - This study investigates the clinical effects and safety of subcutaneous Copper Histidinate treatment for newly diagnosed Menkes disease patients under 6 years of age.

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
https://clinicaltrials.gov/ct2/show/NCT00811785

Nov 19th, 2020 - Study Description: The purpose of this study is to allow currently enrolled participants to complete their three-year course of subcutaneous Copper Histidinate treatment under the protocol. We hypothesize that subcutaneous injections of this drug ...

Selumetinib in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
https://clinicaltrials.gov/ct2/show/NCT01278615

Feb 3rd, 2016 - PRIMARY OBJECTIVES: I. To evaluate the overall response rate (combined complete remission [CR] and partial remission [PR]) of AZD6244 hyd-sulfate anti-MEK (selumetinib) therapy for patients with relapsed or refractory diffuse large B-cell lymphoma...

Copper Histidine Therapy for Menkes Diseases
https://clinicaltrials.gov/ct2/show/NCT00001262

Oct 30th, 2015 - Menkes disease is an X-linked recessive neurodegenerative disorder caused by defects in a gene that encodes an evolutionarily conserved copper-transporting ATPase (ATP7A). Several issues must be addressed in configuring therapeutic strategies for ...

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News  1 results

Speedy Gene Testing Could Aid NICU Care
https://www.medpagetoday.com/pediatrics/generalpediatrics/35114

Oct 3rd, 2012 - Action Points Rapid whole-genome testing of critically ill newborns may improve diagnosis and, in some cases, treatment, researchers have found. Note that the new approach combines more rapid genetic sequencing with software that can help focus in...

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