Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kara Pappas"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100358- (2023)
Externí odkaz:
https://doaj.org/article/8db812428c184bde8e56d4a064cac0f7
Publikováno v:
Symptom-Based Approach to Pediatric Neurology ISBN: 9783031104930
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7b3e835a61956b3fc3c5c2640012f00
https://doi.org/10.1007/978-3-031-10494-7_33
https://doi.org/10.1007/978-3-031-10494-7_33
Publikováno v:
Neuropediatrics. 51:160-163
Case We are reporting the third unrelated case of cerebral aspartate–glutamate carrier isoform 1 (AGC1) deficiency. Patient is a 21-month-old Yemeni male who presented with refractory seizure disorder and developmental arrest. Neuroimaging showed c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b548458a5b8b371e07123a6499e48a2c
https://doi.org/10.1055/s-0039-3400976
https://doi.org/10.1055/s-0039-3400976
Publikováno v:
Pediatric Clinics of North America. 66:369-386
Newborn screening has evolved since its introduction in 1963. The disorders that are being screened for continue to evolve as new treatments and new technologies advance. In this review, the authors discuss the current state of newborn screening in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f505ca47a8d7e692dbd59f184c0255e
https://doi.org/10.1016/j.pcl.2018.12.007
https://doi.org/10.1016/j.pcl.2018.12.007
Publikováno v:
Molecular Genetics and Metabolism. 135:267
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39514242ea2611f571eedefe8ed95ec5
https://doi.org/10.1016/j.ymgme.2022.01.031
https://doi.org/10.1016/j.ymgme.2022.01.031
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report
Publikováno v:
European journal of medical genetics. 64(4)
The homozygous missense variant in the GOSR2 gene (c.430G > T) is known to be associated with progressive myoclonic epilepsy (PME). The clinical presentation of GOSR2-related PME involves the development of ataxia, seizures, scoliosis, areflexia, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a193d83577b6c50f183e9206d3336ea
https://pubmed.ncbi.nlm.nih.gov/33639315
https://pubmed.ncbi.nlm.nih.gov/33639315
Autor:
Shagun Kaur, Kara Pappas
Publikováno v:
NeoReviews. 21(10)
Neonates presenting with seizures are frequently assessed and managed by neonatologists in the NICU. Although hypoxic-ischemic encephalopathy and infection are common underlying causes of neonatal seizures, many patients with neonatal epilepsy will h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63f6f9fbe05d7db22555d617e220a18
https://pubmed.ncbi.nlm.nih.gov/33004559
https://pubmed.ncbi.nlm.nih.gov/33004559
Publikováno v:
Molecular Genetics and Metabolism. 132:S111-S112
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5dd526b3a314929c84134f8cbc8cfec
https://doi.org/10.1016/s1096-7192(21)00254-7
https://doi.org/10.1016/s1096-7192(21)00254-7
Publikováno v:
Molecular Genetics and Metabolism. 132:S15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c94eb76612aa4f95b78ac7acb1bdaf5f
https://doi.org/10.1016/s1096-7192(21)00109-8
https://doi.org/10.1016/s1096-7192(21)00109-8
Publikováno v:
European Journal of Human Genetics. 16:153-162
Only one X chromosome functions in diploid human cells irrespective of the sex of the individual and the number of X chromosomes. Yet, as we show, more than one X is active in the majority of human triploid cells. Therefore, we suggest that (i) the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f583d62592784b03325ab27fa75a488d
https://doi.org/10.1038/sj.ejhg.5201944
https://doi.org/10.1038/sj.ejhg.5201944