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Pediatrics|August 3, 2001
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemiaS L Rutledge, J Atchison, N U Bosshard, et al.
European Journal of Pediatrics|August 1, 1998
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantationC P Braegger, D C Belli, G Mentha, et al.
European Journal of Pediatrics|October 1, 1989
Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?M Steinlin, E Boltshauser, B Steinmann, et al.
European Journal of Pediatrics|November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureR Santer, R Schneppenheim, D Suter, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Pediatric Research|April 1, 1976
Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsA Niederwieser, A Matasović, B Steinmann, et al.
Diabetologia|September 15, 2004
Maternal dietary vitamin restriction increases body fat content but not insulin resistance in WNIN rat offspring up to 6 months of ageL Venu, N Harishankar, T Prasanna Krishna, et al.
Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|July 10, 2002
Indoor gamma dose measurements in Gudalore (India) using TLDR Sivakumar, S Selvasekarapandian, N Mugunthamanikandan, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
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.
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