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Article

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

European journal of pediatrics - 19 Dec 2024

Çelik Nurullah, Demir Korcan, Dibeklioğlu Saime Ergen, Dündar Bumin Nuri, Hatipoğlu Nihal, Mutlu Gül Yeşiltepe, Arslan Emrullah, Yıldırımçakar Didem, Çayır Atilla, Hacıhamdioğlu Bülent, Sütçü Zümrüt Kocabey, Ünsal Yağmur, Karagüzel Gülay

Abstract excerpt

Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated. The...

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Child, Preschool
Cross-Sectional Studies
Infant
Monocarboxylic Acid Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Hypotonia

Muscular Atrophy

X-Linked Intellectual Disability

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PMID: 39699593
DOI: 10.1007/s00431-024-05931-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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