Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.

Kutlay Gür; Dilek Uludağ Alkaya; Nilay Güneş; Hilal Onur; Tanyel Zübarioğlu; Ayşe Ayzıt Kılınç Sakallı; Seha Kamil Saygılı; Ayça Kıykım; Cengiz Yalçınkaya; Beyhan Tüysüz

doi:10.1007/s10048-026-00948-6

SCHEDA SCIENTIFICA2026Caso clinico

Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.

Kutlay Gür, Dilek Uludağ Alkaya, Nilay Güneş, Hilal Onur, Tanyel Zübarioğlu, Ayşe Ayzıt Kılınç Sakallı, Seha Kamil Saygılı, Ayça Kıykım, Cengiz Yalçınkaya, Beyhan Tüysüz

Neurogenetics · 2026

Neuroscienze Psicologia dello sviluppo

Abstract e pubblicazione originale

L’abstract è consultabile nella fonte originale. Non viene ripubblicato qui perché non risulta verificata una licenza compatibile.

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Parole chiave

HumansBrainDevelopmental DisabilitiesEpilepsyMagnetic Resonance ImagingMucopolysaccharidosesPhenotypeVesicular Transport ProteinsVPS16Brain diseases, metabolic, inbornDevelopmental disabilitiesMuscle spasticity

Come citare questo studio

Kutlay Gür, Dilek Uludağ Alkaya, Nilay Güneş, Hilal Onur, Tanyel Zübarioğlu, Ayşe Ayzıt Kılınç Sakallı, Seha Kamil Saygılı, Ayça Kıykım, Cengiz Yalçınkaya, Beyhan Tüysüz. (2026). Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.. Neurogenetics. DOI: 10.1007/s10048-026-00948-6

Consulta la pubblicazione originale ↗