Болест на Pelizeaus Merzbacher - клинично и генетично верифициран български случай

Болест на Pelizeaus Merzbacher - клинично и генетично верифициран български случай

Болестта на Pelizaeus-Merzbacher (PMD, суданофилна левкодистрофия) е прогресивно, дегенеративно, генетично обусловено заболяване, асоцииращо се с мутация в гена за протеолипиден протеин (PLP 1) – основен структурен протеин на миелина. Заболяването е Х-свързано, поради което боледуват предимно момче...

Full description

Bibliographic Details
Main Authors:	Maya Koleva, V. Bojinova, T. Todorov, A. Todorova, I. Milanov
Format:	Article
Language:	Bulgarian
Published:	Bulgarian Society of Neurology 2019-06-01
Series:	Българска неврология
Subjects:	болест на Pelizaeus Merzbacher левкодистрофии нарушения в миелина генетични изследвания МРТ на главен мозък
Online Access:	https://www.nevrologiabg.com/journal/index.php/neurology/article/view/74

Similar Items

Левкодистрофии и левкоенцефалопатии в детската възраст – актуална класификация, диагностициране и лечение
by: Veneta Bojinova, et al.
Published: (2020-10-01)

Паркинсонов синдром при болест на Gaucher тип 1 – клиничен случай
by: Sashka Zhelyazkova, et al.
Published: (2022-12-01)

Pelizaeus-Merzbacher Hastalığına sahip pediatrik bir hastada rehabilitasyon deneyimi
by: Mazlum Serdar Akaltun, et al.
Published: (2018-06-01)

Генетично верифициран случай на невронална цероидлипофусциноза с нова мутация в CLN6 гена
by: Maya Koleva, et al.
Published: (2019-06-01)

The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series
by: Angela M. Trepanier, et al.
Published: (2023-09-01)

Subclinical hypothyroidism and Pelizaeus-Merzbacher Disease in same-sex twins: Case report
by: Andrea Marcia Pereira Vieira, et al.
Published: (2021-12-01)

Pelizaeus-Merzbacher Disease, Easily Misdiagnosed as Cerebral Palsy: A Report of a Three-generation Family
by: Yen-Chun Chen, et al.
Published: (2014-04-01)

Основни детерминанти на полиневропатията при пациенти с болест на Паркинсон
by: Valentina Ignatova
Published: (2019-12-01)

Клиничен случай на пациентка с Morbus Hirayama – представяне, диагноза и диференциално-диагностични аспекти
by: Teodor Angelov, et al.
Published: (2021-12-01)

Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease
by: Ruoyu Duan, et al.
Published: (2022-03-01)

A novel non-human primate model of Pelizaeus-Merzbacher disease
by: Larry S. Sherman, et al.
Published: (2021-10-01)

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
by: Jaber Lyahyai, et al.
Published: (2018-02-01)

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis
by: Hanna Mierzewska, et al.
Published: (2016-03-01)

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
by: Mihael Rogac, et al.
Published: (2023-07-01)

Pelizaeus-Merzbacher Disease: A Case Report
by: Ghazaleh Jamalipour Soufi, et al.
Published: (2020-08-01)

Magnetic Resonance Imaging and Spectroscopy Analysis in a Pelizaeus–Merzbacher Disease Rat Model
by: Maho Ishikawa, et al.
Published: (2022-08-01)

Leucodystrophies at children
by: Wiktoria Sielwanowska, et al.
Published: (2023-08-01)

Клинично проучване на ефект и поносимост на лечението с пробиотик (omnibiotic migra) при пациенти с епизодична мигрена
by: Desislava Bogdanova, et al.
Published: (2021-04-01)

Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction
by: Pelzer Lindsay, et al.
Published: (2011-06-01)

Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
by: Elif GÖKÇAL, et al.
Published: (2019-07-01)

Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation
by: Sui Sawaguchi, et al.
Published: (2021-03-01)

Фамилен, генетично верифициран случай на фациоскапулохумерална мускулна дистрофия с ранно начало
by: Maya Koleva, et al.
Published: (2020-12-01)

Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen
by: Sui Sawaguchi, et al.
Published: (2022-02-01)

Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen
by: Sui Sawaguchi, et al.
Published: (2021-12-01)

<it>In vitro </it>and <it>in vivo </it>plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
by: Wood Paul L, et al.
Published: (2011-10-01)

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
by: Swati R. Chanchani, et al.
Published: (2020-03-01)

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47
by: Charles K. Abrams
Published: (2023-04-01)

Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia
by: Guy Khalaf, et al.
Published: (2022-07-01)

Автозомно-доминантен и автозомно-рецесивен Ювенилен паркинсонизъм – I част
by: Iliyana Aleksandrova, et al.
Published: (2023-12-01)

Актуална терминология, диагностициране и възможности за съвременно лечение
by: Veneta Bojinova, et al.
Published: (2023-12-01)

Невропсихологични патерни на увреда при инфратенториални мозъчни инсулти
by: Valentina Ignatova, et al.
Published: (2019-12-01)

Ювенилен паркинсонизъм – Дистония-паркинсонизъм, Атаксия-паркинсонизъм, Спастична параплегия-паркинсонизъм, Паркинсонизъм при нарушение на обмяната на металите – II част
by: Iliyana Aleksandrova, et al.
Published: (2023-12-01)

Епилепсия с миоклонии на клепачите и абсанси (синдром на Jeavons)
by: Iliyana Aleksandrova, et al.
Published: (2020-12-01)

Диференциална диагноза на детската церебрална парализа
by: Elena Rodopska, et al.
Published: (2019-06-01)

Миопатия тип Bethlem при момиче на 4-годишна възраст
by: Asia Asenova, et al.
Published: (2022-07-01)

Анализ затрат на персонал в легкой и текстильной промышленности Республики Беларусь
by: Е.А. Алексеева
Published: (2019-01-01)

Натриеви каналопатии и епилепсия (II част)
by: Iliyana Aleksandrova, et al.
Published: (2021-12-01)

Натриеви каналопатии и епилепсия (I част)
by: Iliyana Aleksandrova, et al.
Published: (2021-12-01)

ЦРВЕНОТО И ЦРНОТО
by: Божидар Језерник
Published: (2016-11-01)

Полимикрогирия при патогенни варианти в COL18A1 гена, асоциирани с Knobloch синдром тип 1
by: Daniela Deneva, et al.
Published: (2021-04-01)