R Gitzelmann

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Andrea Superti‐Furga, Johanna Hästbacka, William R. Wilcox et al. · Nature Genetics · 1996 · 234 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

B Steinmann, V H Rao, A. Vogel et al. · Journal of Biological Chemistry · 1984 · 195 citations · Full text

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

Andrea Superti‐Furga, E Gugler, R Gitzelmann et al. · Journal of Biological Chemistry · 1988 · 194 citations · Full text

Immunodeficiencies, Genetics, Genetic Epidemiology +21

Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31

R Gitzelmann · Pediatric Research · 1967 · 166 citations · Full text

Ocular Disease, Ophthalmology, Hereditary Galactokinase Deficiency +5

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.

A. Vogel, K A Holbrook, B Steinmann et al. · PubMed · 1979 · 157 citations