Results 111 to 120 of about 1,590 (147)

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China

open access: yesGenes and Diseases
Yikun Chen   +10 more
doaj   +1 more source

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia. [PDF]

open access: yesInt J Mol Sci
Alcántara-Ortigoza MA   +16 more
europepmc   +1 more source

Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management. [PDF]

open access: yesHeart Fail Rev
Patel U   +9 more
europepmc   +1 more source

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease. [PDF]

open access: yesJ Neuroophthalmol
Dugue AG   +4 more
europepmc   +1 more source

A 61-Year-Old Man With Weakness and Gait Dysfunction. [PDF]

open access: yesJAMA Neurol
Jones FJS   +2 more
europepmc   +1 more source

The genetic landscape of pediatric postural orthostatic tachycardia syndrome. [PDF]

open access: yesClin Auton Res
Qu H   +13 more
europepmc   +1 more source

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