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Journals / Çocuk Dergisi / 2007 / Cilt: 7 - Sayı: 4

Mucolipidosis type III: Mild phenotype-difficult diagnosis

Mukolipidoz tip III: Hafif fenotip zor tanı

Rasim Özgür ROSTİ
CİHAN KARATAŞ
Hülya KAYSERİLİ
Pages
279–285
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The purpose of this article is to alert the clinician of an entity that is rare and has a mild phenotype that can be easily overseen.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Mucolipidosis type III is a rare lysosomal storage disease characterized by mild mental retardation and the onset of progressive joint stiffness after three years of age.
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Key Findings & Data:A milder phenotype is observed compared to the other storage disorders.
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Conclusion & Impact:The purpose of this article is to alert the clinician of an entity that is rare and has a mild phenotype that can be easily overseen.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Mucolipidosis type III is a rare lysosomal storage disease characterized by mild mental retardation and the onset of progressive joint stiffness after three years of age. A milder phenotype is observed compared to the other storage disorders. The purpose of this article is to alert the clinician of an entity that is rare and has a mild phenotype that can be easily overseen.

Özet

Mukolipidoz tip III üç yaşından sonra başlayan ilerleyici eklem kısıtlılığı ve hafif mental retardasyonun görüldüğü ender bir lizozomal depo hastalığıdır. Diğer depo hastalıklarına oranla çok daha hafif bir fenotip gözlenir. Bu yazının amacı ender görülen ve fenotipi hafif olduğu için tanı koyma zorluğu olan bu sendromu klinisyenlere tanıtmaktır.

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Cite This Article

ROSTİ, R. Ö., KARATAŞ, C., KAYSERİLİ, H. (2007). Mucolipidosis type III: Mild phenotype-difficult diagnosis. Çocuk Dergisi, Cilt: 7 - Sayı: 4, 279–285. https://ajindex.com/articles/158557

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References (13)

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