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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703.
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PubMed
subject areas
Adenosine Triphosphate
Atrophy
Brain Diseases
Child
Epilepsy
Homeostasis
Humans
Infant
Intellectual Disability
Lysosomes
Phenotype
Spasms, Infantile
Vacuolar Proton-Translocating ATPases
authors with profiles
Luca Maragliano