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Environmental Health Perspectives|May 3, 2001
In vitro and in vivo estrogenicity of UV screensM Schlumpf, B Cotton, M Conscience, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1979
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndromeA Vogel, K A Holbrook, B Steinmann, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduriaM Kranendijk, G S Salomons, K M Gibson, et al.
Neuropediatrics|June 1, 1996
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, S Athanassopoulos, A B Burlina, et al.
Neurology|February 1, 1993
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptorB Schmitt, B Steinmann, R Gitzelmann, et al.
American Journal of Medical Genetics|March 10, 2001
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literatureD Baumgartner, I Gassner, W Sperl, et al.
Helvetica Paediatrica Acta|May 1, 1984
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemiaB Steinmann, H E Gnehm, V H Rao, et al.
American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.
Journal of Inherited Metabolic Disease|November 13, 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda, M R Baumgartner, R Santer, et al.
European Radiology|April 18, 2002
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlationT A G M Huisman, T Thiel, B Steinmann, et al.
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