George Hoganson
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Cytochrome c oxidase deficiency in leigh syndrome(1987)363 cited
- → Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial(2001)347 cited
- → Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation(2007)290 cited
- → Role of Tyrosinase as the Determinant of Pigmentation in Cultured Human Melanocytes(1993)267 cited
- → Phenylketonuria in adulthood: A collaborative study(2002)214 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience(2017)189 cited
- → Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome(1995)145 cited
- → Laminin α2 muscular dystrophy(1998)118 cited
- → Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial(2001)91 cited