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Human Molecular Genetics|September 1, 1994
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)D T Bonthron, N Brady, I A Donaldson, et al.
European Journal of Pediatrics|May 1, 1988
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literatureC Rudin, L Thommen, C Fliegel, et al.
American Journal of Medical Genetics|August 26, 1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosisA Jarisch, C Giunta, S Zielen, et al.
Human Genetics|June 1, 1993
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type IIK Mackay, A M Lund, M Raghunath, et al.
Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathologyE R Baumgartner, H Wick, R Maurer, et al.
Journal of Thrombosis and Haemostasis : JTH|March 26, 2011
Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndromeE C M Cranenburg, K Y VAN Spaendonck-Zwarts, L Bonafe, et al.
Archives of Biochemistry and Biophysics|October 15, 1983
Ascorbate deficiency results in decreased collagen production: under-hydroxylation of proline leads to increased intracellular degradationR A Berg, B Steinmann, S I Rennard, et al.
The Journal of Biological Chemistry|November 15, 1988
The structure of human collagen type IX and its organization in fetal and infant cartilage fibrilsP Bruckner, M Mendler, B Steinmann, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1986
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen alleleD H Cohn, P H Byers, B Steinmann, et al.
The Journal of Biological Chemistry|July 25, 1993
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptideD F Holmes, R B Watson, B Steinmann, et al.
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