Menkes disease: importance of diagnosis with molecular analysis in the neonatal period [PDF]
, 2015 Larissa Sampaio de Athayde Costa +8 more
openalex +2 more sources
Pili Torti: A Clue to Life-threatening Illness – A Rare Case Report
Indian Journal of Paediatric DermatologyMenkes kinky hair disease (MKHD) is a rare inherent error of copper metabolism presenting during early infancy with multi-system involvement. It is associated with high morbidity and mortality in early childhood.
Nikita M. Patel +3 more
doaj +1 more source
Correction: Corrigendum: The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene [PDF]
, 1994 P Bull +4 more
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Menkes Disease Phenotypes in Heterozygotes [PDF]
, 1999 Dana Kostiner +11 more
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Ethics in pre-ART genetics: a missed X-linked Menkes disease case. [PDF]
J Assist Reprod Genet, 2023 Gerdes AA, Møller LB, Horn N.
europepmc +1 more source
Correction: Corrigendum: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase [PDF]
, 1993 C Vulpe +4 more
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ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model [PDF]
, 2011 Anthony Donsante +9 more
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Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease. [PDF]
J Clin Med, 2023 Rozensztrauch A, Dzien I, Śmigiel R.
europepmc +1 more source
Mutation Analysis Provides Additional Proof That Mottled is the Mouse Homologue of Menkes' Disease [PDF]
, 1997 Victoria Reed, Yvonne Boyd
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Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease. [PDF]
Skin Appendage Disord, 2022 Sáez-de-Ocariz M +5 more
europepmc +1 more source