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About 258 results

ALLMedicine™ Menkes Disease Center

Research & Reviews  101 results

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene ...
https://doi.org/10.1136/bcr-2021-247937
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...

Menkes Disease: Clinical Presentation and Imaging Characteristics.
https://doi.org/10.1055/a-1762-0354
Neuropediatrics Means MJ, Santos FJR et. al.

Feb 6th, 2022 - Menkes Disease: Clinical Presentation and Imaging Characteristics.|2022|Means MJ,Santos FJR,Sotardi ST,Beslow LA,|

Long Term Follow-up on Menkes Disease Patients
https://clinicaltrials.gov/ct2/show/NCT04337684

Jul 28th, 2021 - Primary Objective: To provide additional clinical and safety data on long term following administration of Copper Histidinate treatment in patients treated with Copper Histidinate under Protocols 09-CH-0059 and 90-CH0149 and untreated patients pre...

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Clinicaltrials.gov  1 results

Long Term Follow-up on Menkes Disease Patients
https://clinicaltrials.gov/ct2/show/NCT04337684

Jul 28th, 2021 - Primary Objective: To provide additional clinical and safety data on long term following administration of Copper Histidinate treatment in patients treated with Copper Histidinate under Protocols 09-CH-0059 and 90-CH0149 and untreated patients pre...

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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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