Showing results (21-30 of 31) with videos related to
Sort By:
Pageof 4
Pediatrics|July 4, 2001
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening cardJ C Wood, M J Magera, P Rinaldo, et al.European Journal of Pediatrics|December 11, 1999
Glucose transporter type 1 deficiency: a study of two cases with video-EEGR G Boles, M R Seashore, W G Mitchell, et al.Archives of Dermatology|October 1, 1993
Dermatosparaxis in children. A case report and review of the newly recognized phenotypeE M Petty, M R Seashore, I M Braverman, et al.American Journal of Medical Genetics|November 1, 1992
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boyS P Lin, E M Petty, L H Gibson, et al.Journal of Inherited Metabolic Disease|August 1, 1997
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)D S Rosenblatt, A L Aspler, M I Shevell, et al.Pediatric Research|February 1, 1995
In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopyE J Novotny, M J Avison, N Herschkowitz, et al.Biochemical Medicine and Metabolic Biology|February 1, 1992
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implicationsJ Vockley, C M Vockley, S P Lin, et al.Clinical Genetics|October 1, 1977
7q deletion syndrome (7q32 leads to 7qter)E L Harris, R S Wappner, C G Palmer, et al.European Journal of Clinical Nutrition|January 23, 2014
Plasma 25-hydroxyvitamin D and risk of metabolic syndrome: an ancillary analysis in the Diabetes Prevention ProgramJ Mitri, J Nelson, R Ruthazer, et al.American Journal of Human Genetics|August 1, 1992
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagenL T Smith, W Wertelecki, L M Milstone, et al.Pageof 4