Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F11%3A10101416" target="_blank" >RIV/00216208:11150/11:10101416 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00179906:_____/11:10101416

Výsledek na webu

<a href="http://www.sciencedirect.com/science/article/pii/S0925443911000469" target="_blank" >http://www.sciencedirect.com/science/article/pii/S0925443911000469</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.bbadis.2011.02.011" target="_blank" >10.1016/j.bbadis.2011.02.011</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern

Popis výsledku v původním jazyce

Clinical and biochemical data of ten patients with a so far genetically unsolved glycosylation defect (CDG) are reviewed. The biochemical results were compatible with a type II transferrin isofocusing pattern, suggestive of a Goldi-related inborn error of metabolism. By combining biochemical results with distinctive clinical symptoms we composed a diagnostic flow chart to approach the underlying defect in patients with CDG type IIx. In this group of patients, we found great heterogeneity in clinical symptoms and disease severity. We present a whole new spectrum of CDG-associated anomalies and recommend clinicians to consider CDG syndrome in patients with a far broader spectrum of signs and symptoms than described so far. This includes multiple dysmorphic features, skeletal dysplasia, cardiomyopathy, sudden cardiac arrest, sudden hearing loss, elevated serum copper level, liver failure and endocrine abnormalities. Normal psychomotor development does not exclude CDG type II.

Název v anglickém jazyce

Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern

Popis výsledku anglicky

Clinical and biochemical data of ten patients with a so far genetically unsolved glycosylation defect (CDG) are reviewed. The biochemical results were compatible with a type II transferrin isofocusing pattern, suggestive of a Goldi-related inborn error of metabolism. By combining biochemical results with distinctive clinical symptoms we composed a diagnostic flow chart to approach the underlying defect in patients with CDG type IIx. In this group of patients, we found great heterogeneity in clinical symptoms and disease severity. We present a whole new spectrum of CDG-associated anomalies and recommend clinicians to consider CDG syndrome in patients with a far broader spectrum of signs and symptoms than described so far. This includes multiple dysmorphic features, skeletal dysplasia, cardiomyopathy, sudden cardiac arrest, sudden hearing loss, elevated serum copper level, liver failure and endocrine abnormalities. Normal psychomotor development does not exclude CDG type II.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2011

Kód důvěrnosti údajů

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

Název periodika

Biochimica et Biophysica Acta - Molecular Basis of Disease

ISSN

0925-4439

e-ISSN

—

Svazek periodika

1812

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

8

Strana od-do

691-698

Kód UT WoS článku

000290508000006

EID výsledku v databázi Scopus

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