Types of congenital nonsyndromic ichthyoses

J 2020

Types of congenital nonsyndromic ichthyoses

PINKOVÁ, Blanka, Hana BUČKOVÁ, Romana BORSKÁ a Lenka FAJKUSOVÁ

Základní údaje

Originální název

Types of congenital nonsyndromic ichthyoses

Autoři

PINKOVÁ, Blanka (203 Česká republika, garant, domácí), Hana BUČKOVÁ (203 Česká republika, domácí), Romana BORSKÁ (203 Česká republika, domácí) a Lenka FAJKUSOVÁ (203 Česká republika, domácí)

Vydání

Biomedical Papers, Olomouc: Palacky University, Olomouc, Palacky University, 2020, 1213-8118

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30209 Paediatrics

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.245

Kód RIV

RIV/00216224:14110/20:00118031

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.5507/bp.2020.050

UT WoS

000604951200002

Klíčová slova anglicky

ichthyosis; diagnostics; molecular analysis of DNA; therapy

Štítky

14110212, 14110317, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 27. 1. 2021 10:12, Mgr. Tereza Miškechová

Anotace

V originále

Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.

Citovat

PINKOVÁ, Blanka, Hana BUČKOVÁ, Romana BORSKÁ a Lenka FAJKUSOVÁ. Types of congenital nonsyndromic ichthyoses. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, 2020, roč. 164, č. 4, s. 357-365. ISSN 1213-8118. Dostupné z: https://dx.doi.org/10.5507/bp.2020.050.

@article{1734418,
   author = {Pinková, Blanka and Bučková, Hana and Borská, Romana and Fajkusová, Lenka},
   article_location = {Olomouc},
   article_number = {4},
   doi = {http://dx.doi.org/10.5507/bp.2020.050},
   keywords = {ichthyosis; diagnostics; molecular analysis of DNA; therapy},
   language = {eng},
   issn = {1213-8118},
   journal = {Biomedical Papers, Olomouc: Palacky University},
   title = {Types of congenital nonsyndromic ichthyoses},
   url = {https://biomed.papers.upol.cz/pdfs/bio/2020/04/02.pdf},
   volume = {164},
   year = {2020}
}

TY  - JOUR
ID  - 1734418
AU  - Pinková, Blanka - Bučková, Hana - Borská, Romana - Fajkusová, Lenka
PY  - 2020
TI  - Types of congenital nonsyndromic ichthyoses
JF  - Biomedical Papers, Olomouc: Palacky University
VL  - 164
IS  - 4
SP  - 357-365
EP  - 357-365
PB  - Palacky University
SN  - 12138118
KW  - ichthyosis
KW  - diagnostics
KW  - molecular analysis of DNA
KW  - therapy
UR  - https://biomed.papers.upol.cz/pdfs/bio/2020/04/02.pdf
L2  - https://biomed.papers.upol.cz/pdfs/bio/2020/04/02.pdf
N2  - Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.
ER  -

PINKOVÁ, Blanka, Hana BUČKOVÁ, Romana BORSKÁ a Lenka FAJKUSOVÁ. Types of congenital nonsyndromic ichthyoses. \textit{Biomedical Papers, Olomouc: Palacky University}. Olomouc: Palacky University, 2020, roč.~164, č.~4, s.~357-365. ISSN~1213-8118. Dostupné z: https://dx.doi.org/10.5507/bp.2020.050.

Podrobný výpis o publikaci