Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10413068" target="_blank" >RIV/00216208:11110/20:10413068 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/20:10413068

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9gsSJtV4fw" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9gsSJtV4fw</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/jimd.12241" target="_blank" >10.1002/jimd.12241</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Popis výsledku v původním jazyce

Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of proteinN-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants inMPIgene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts&apos; opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.

Název v anglickém jazyce

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Popis výsledku anglicky

Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of proteinN-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants inMPIgene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts&apos; opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

—

Svazek periodika

43

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

23

Strana od-do

671-693

Kód UT WoS článku

000552030200005

EID výsledku v databázi Scopus

2-s2.0-85083663581