Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Z. K. Gorchkhanova"'
Autor:
A. M. Pivovarova, M. Yu. Dorofeeva, A. R. Zabrodina, S. V. Bochenkov, A. V. Grigoryeva, Z. K. Gorchkhanova, V. R. Voronina
Publikováno v:
Русский журнал детской неврологии, Vol 19, Iss 2, Pp 8-19 (2024)
Neurofibromatosis type 1 is a multisystem genetic disorder associated with an increased risk of benign and malignant tumors due to mutations in the NF1 gene. Clinical manifestations of the disease vary and depend on the patient’s age. One of the mo
Externí odkaz:
https://doaj.org/article/b4e6033da53041e09b4872bd981b78d1
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 4 (2024)
We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- spe
Externí odkaz:
https://doaj.org/article/45e1a539c6f64b6ca82d0610c082d7bf
Publikováno v:
Русский журнал детской неврологии, Vol 12, Iss 2, Pp 34-39 (2017)
Background. Early detection of epileptiform activity on the electroencephalogram (EEG) and preventive antiepileptic therapy in patients with tuberous sclerosis (TS) help to avoid the development of severe forms of epilepsy as well as cognitive disord
Externí odkaz:
https://doaj.org/article/b71390b66f954af88600245bca3ecafe
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:113-122
Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2706fa184eb53306992d241fa77545f
https://doi.org/10.21508/1027-4065-2022-67-6-113-122
https://doi.org/10.21508/1027-4065-2022-67-6-113-122
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:103-108
The purpose of this work is to demonstrate the possibility of applying the case method for teaching the diagnosis of orphan diseases on a specific example. The article presents the possibilities of virtual diagnostics of a rare clinical case — a co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7c99203b7a13b06d454eb5fd8b8835d
https://doi.org/10.21508/1027-4065-2022-67-5-103-108
https://doi.org/10.21508/1027-4065-2022-67-5-103-108
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 6, Pp 63-70 (2022)
Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4fa992650c07c452b1ecb64a943de9
https://www.ped-perinatology.ru/jour/article/view/1531
https://www.ped-perinatology.ru/jour/article/view/1531