Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rafat Sayed"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 115-118 (2016)
Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxo
Externí odkaz:
https://doaj.org/article/e75c6ffb97944021a638f56c47e45f16
Publikováno v:
Clinical dysmorphology. 30(4)
CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a97a945da102ce7a9cb2ef32593f591
https://pubmed.ncbi.nlm.nih.gov/34091503
https://pubmed.ncbi.nlm.nih.gov/34091503
Publikováno v:
The Indian Journal of Pediatrics. 84:315-321
The syndrome of acute flaccid paralysis (AFP) is a common medical emergency in children. In the era of poliomyelitis eradication, the common causes of AFP include Guillain-Barré syndrome (GBS), transverse myelitis and traumatic neuritis. However, ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb95409cc3ade099eca047fe6920166
https://doi.org/10.1007/s12098-016-2276-y
https://doi.org/10.1007/s12098-016-2276-y
Publikováno v:
Journal of Pediatric Neurology. 14:089-092
Peroxisomal biogenesis disorders are a group of rare genetic disorders due to impairment in one or more peroxisomal function. Infantile Refsum disease (IRD) is a peroxisomal biogenesis disorder caused by a defect in phytanic acid metabolism. We repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed876764ce40277a1dd7dfab8c856b94
https://doi.org/10.1055/s-0036-1583273
https://doi.org/10.1055/s-0036-1583273
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 115-118 (2016)
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology
Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be44a9ec4f036075de648bc2ff2e694
http://www.annalsofian.org/article.asp?issn=0972-2327
http://www.annalsofian.org/article.asp?issn=0972-2327
Publikováno v:
Indian Pediatrics. 53:917-919
Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.10-year-old boy presented with progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b13b471ddc0135b7e9b36720772ef245
https://doi.org/10.1007/s13312-016-0960-7
https://doi.org/10.1007/s13312-016-0960-7
Publikováno v:
Journal of Pediatric Epilepsy. :034-036
Glucose transporter 1 deficiency syndrome (GLUT1 DS) is a treatable neurometabolic condition caused by impaired glucose transport across the blood–brain barrier. The phenotypic spectrum of this condition has expanded with complex movement disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c68198dde619b0496778919be4acae4
https://doi.org/10.1055/s-0035-1567852
https://doi.org/10.1055/s-0035-1567852
Publikováno v:
Pediatric neurology. 64
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645db492d906d32c82c26ba4805909cd
https://pubmed.ncbi.nlm.nih.gov/27568291
https://pubmed.ncbi.nlm.nih.gov/27568291
Publikováno v:
Neuromuscular disorders : NMD. 25(11)
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450c54eb0cdf21321ab8408f48a9f8b8
https://pubmed.ncbi.nlm.nih.gov/26432165
https://pubmed.ncbi.nlm.nih.gov/26432165
Publikováno v:
Neurology India. 65:393
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86f8ab4c60058e07acfb7b87256c5216
https://doi.org/10.4103/neuroindia.ni_1218_15
https://doi.org/10.4103/neuroindia.ni_1218_15