Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.02.014
Abstract: Mitochondrial disorders causing neurodegeneration in childhood are genetically heterogeneous, and the underlying genetic etiology remains unknown in many affected individuals. We identified biallelic variants in PMPCB in individuals of four families including one family with… read more here.
Keywords: catalytic subunit; neurodegeneration; neurodegeneration early; mutations pmpcb ... See more keywords
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
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DOI: 10.1055/s-0042-1742322
Abstract: BACKGROUND  Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency associated with mutations in the ITPA gene is a recently characterized purine pathway defect that presents with early infantile epileptic encephalopathy and lethal course. This disorder is rare, and… read more here.
Keywords: early infantile; infantile epilepsy; epilepsy associated; epilepsy ... See more keywords
Are We Overlooking the Neurodegeneration in the Early Stage of Type 1 Diabetes Mellitus without Visual Impairment or Diabetic Retinopathy: Is It Probably Occurred before Retinal Vasculature Dysfunction?
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DOI: 10.1080/02713683.2022.2152056
Abstract: Abstract Purpose Using electrophysiology (ERG) to investigate the early alterations of retinal function in diabetic children and adolescents without diabetic retinopathy (DR) or visual impairment (VI). Methods We recorded and compared the data of full-field… read more here.
Keywords: early stage; type diabetes; diabetes mellitus; diabetic retinopathy ... See more keywords