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pro vyhledávání: '"Hyoung Won Choi"'
Autor:
Hyoung Won Choi, Nancy L. Kuntz
Publikováno v:
Pediatric Neurology Briefs, Vol 29, Iss 11 (2015)
Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.
Externí odkaz:
https://doaj.org/article/f426b213cb9e4f1aaf3e44f13d3c2612
Autor:
Hyoung Won Choi
Publikováno v:
Pediatric Neurology. 125:40-47
Fasciculations are the most common form of spontaneous muscle contraction. They frequently occur in healthy individuals. However, there are a minority of situations that fasciculations are observed in association with specific neurologic disorders. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f478fc590a4e9f70a6bc547c37408c
https://doi.org/10.1016/j.pediatrneurol.2021.08.008
https://doi.org/10.1016/j.pediatrneurol.2021.08.008
Publikováno v:
J Pediatr Neurol
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3536f0f66b876466eea63511fec169f0
https://europepmc.org/articles/PMC7410095/
https://europepmc.org/articles/PMC7410095/
Autor:
Nancy L. Kuntz, Hyoung Won Choi
Publikováno v:
NeoReviews. 17:e719-e728
The diagnosis of peripheral nerve disorders in the neonate is challenging because of a wide range of conditions that can present with similar clinical features. The neonate with peripheral nerve disorders typically manifests generalized hypotonia wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2045b1f160688a71d94d1c9ac2d187e7
https://doi.org/10.1542/neo.17-12-e719
https://doi.org/10.1542/neo.17-12-e719
Autor:
Hyoung Won Choi, Nancy L. Kuntz
Publikováno v:
Pediatric Neurology Briefs
Pediatric Neurology Briefs, Vol 29, Iss 11 (2015)
Pediatric Neurology Briefs, Vol 29, Iss 11 (2015)
Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd237c5f2df91d9302c5a7d5dd40107d
https://pubmed.ncbi.nlm.nih.gov/26933540
https://pubmed.ncbi.nlm.nih.gov/26933540
Publikováno v:
Pediatric cardiology. 34(4)
Kearns-Sayre syndrome is a rare mitochondrial disorder characterized by large-scale deletion or rearrangement of mitochondrial DNA, which is usually not inherited but occur spontaneously probably at the germ cell level or very early in embryonic deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fec3f2d3696c16bbee4dd5fbb7d742a
https://pubmed.ncbi.nlm.nih.gov/22614904
https://pubmed.ncbi.nlm.nih.gov/22614904
Autor:
Hyoung Won Choi, Kuntz, Nancy L.
Publikováno v:
NeoReviews; Dec2016, Vol. 17 Issue 12, pe719-e728, 10p