René Santer
University of Hamburg
EndocrinologyGeneticsDiabetes mellitusMedicineBiology
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Publications 125
Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology and the natural course of hip pathologies in MLII by systematic evaluation of plain radiographs, ultrasounds and magnetic resonance imaging (MRI). An international two-centered study was performed by retrospective chart review. All MLII patients with ...
#1Christian Staufner (University Hospital Heidelberg)H-Index: 10
#2Bianca Peters (University Hospital Heidelberg)H-Index: 1
Last. Dominic Lenz (University Hospital Heidelberg)H-Index: 2
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Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear mode...
1 CitationsSource
#1Alessandra Pennisi (Boston Children's Hospital)
#2Bruno Maranda (Université de Sherbrooke)H-Index: 21
Last. Manuel Schiff (University of Paris)H-Index: 21
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#1Johannes Häberle (Boston Children's Hospital)H-Index: 29
#2Alberto BurlinaH-Index: 30
Last. Carlo Dionisi-Vici (Boston Children's Hospital)H-Index: 45
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2 CitationsSource
Absence of SOD1 Activity and Motor Neuron Syndrome In a child with a homozygous truncating mutation in SOD1, SOD1 activity in red cells was absent and fibroblasts grew only with oxygen deprivation....
#1Jennifer N. DinesH-Index: 4
#2Katie Golden-GrantH-Index: 3
Last. Jenny ThiesH-Index: 3
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#1Jennifer N. Dines (UW: University of Washington)H-Index: 4
#2Katie Golden-Grant (Boston Children's Hospital)H-Index: 3
Last. Heather C. Mefford (UW: University of Washington)H-Index: 48
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#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 12
Last. James R. LupskiH-Index: 117
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Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) di...