Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Imad Dweikat"'
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosomal trafficking
Externí odkaz:
https://doaj.org/article/9753ced072de4ea99d27ea93e1b88879
Autor:
Imad Dweikat, Reham Khalaf-Nazzal
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare autosomal recessive disorder characterized by impaired ornithine transport across the inner mitochondrial membrane. HHH is caused by biallelic disease-causing va
Externí odkaz:
https://doaj.org/article/92c7b321971a4a898aac20a7e1b6c9b5
Publikováno v:
Metabolism Open, Vol 9, Iss , Pp 100083- (2021)
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to
Externí odkaz:
https://doaj.org/article/72e0ed413f604e78b6a871b48d87a4bd
Publikováno v:
Indian Journal of Dermatology, Vol 56, Iss 1, Pp 98-100 (2011)
A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation ma
Externí odkaz:
https://doaj.org/article/c250cc91b23e4f8190ef67874b0174ff
Autor:
Fajr M A Sarhan, Afnan W.M. Jobran, Ali Fayyad, Zaid Ghanim, Imad Dweikat, Shireen Elewie, Ala Mustafa Habboub
Publikováno v:
Annals of Medicine & Surgery. 84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2feab3d520aaa2324035e55d885e0061
https://doi.org/10.1016/j.amsu.2022.104842
https://doi.org/10.1016/j.amsu.2022.104842
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosomal trafficking, resulti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::069bc1cadb07a2d61ef7b0e793cfd8b9
https://pubmed.ncbi.nlm.nih.gov/34535129
https://pubmed.ncbi.nlm.nih.gov/34535129
Publikováno v:
Metabolism Open
Metabolism Open, Vol 9, Iss, Pp 100083-(2021)
Metabolism Open, Vol 9, Iss, Pp 100083-(2021)
Background Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a82226461a7c544de5bf74c018cb21
https://doi.org/10.1016/j.metop.2021.100083
https://doi.org/10.1016/j.metop.2021.100083
Publikováno v:
An-Najah University Journal for Research - A (Natural Sciences). 30:71-80
Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations. We report two brothers with mevalonic aciduria characterized cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04166d6b7483df0649130245c14b5469
https://doi.org/10.35552/anujr.a.30.1.1173
https://doi.org/10.35552/anujr.a.30.1.1173
Publikováno v:
Journal of Child Science. :e1-e3
Nephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2f913ca228167c52f131568148f0d39
https://doi.org/10.1055/s-0037-1603743
https://doi.org/10.1055/s-0037-1603743
Publikováno v:
Meta Gene. 25:100751
Background and aims Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder described in the literature in roughly 80 patients. Currently, there is little known about genotype-phenotype correlations in GSSD though severity can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd132e6931c694d1b42d114725e4aa8b
https://doi.org/10.1016/j.mgene.2020.100751
https://doi.org/10.1016/j.mgene.2020.100751