Results 91 to 100 of about 5,184,226 (184)
Disorders of Copper Metabolism in Children—A Problem too Rarely Recognized
MetabolitesCopper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions.
Sabina Więcek, Justyna Paprocka
doaj +1 more source
Isolation of a partial candidate gene for Menkes disease by positional cloning
, 1993 Isolation of a partial candidate gene for Menkes disease by positional ...
JA Paynter (14473296) +10 more
core
, 1993 ISOLATION OF CDNA CLONES OF THE MURINE HOMOLOG OF THE MENKES DISEASE GENE AND ANALYSIS OF THE MOTTLED ...
P LOCKHART (14577548) +7 more
core +1 more source
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
Menkes disease – a rare disorder requiring interdisciplinary management
Pediatria PolskaMenkes disease is a rare, X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, resulting in defective copper transport. The clinical picture is dominated by early-onset neurological decline, connective tissue abnormalities,
Magdalena Jaworek +7 more
doaj +1 more source
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
Mutation analysis of the Menkes gene
, 2005 Menkes disease is a copper deficiency caused by mutations in the Menkes gene, which encodes a copper-transporting protein. This study identified the causative mutations in several Menkes patients, which provided a diagnostic test for relatives and ...
Alanna Clare. Castelli (13784122)
core
Metallothionein expression in placental tissue in Menkes' disease
, 1995 Menkes' disease is a recessive X-linked disturbance of copper metabolism, resulting in accumulation of copper in several extra-hepatic tissues including the placenta.
Hærslev, T. +7 more
core +1 more source
IV. Wilson’s disease and Menkes disease
, 1999 Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson’s disease are inherited disorders of copper metabolism resulting from the absence or ...
Mark Schaefer, Jonathan D. Gitlin
core +1 more source
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