References
Jul 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·M J Champion, T B Shows
Dec 11, 1976·The American Journal of Medicine·J J YunisH H Bruhl
May 1, 1989·Archives of Neurology·R B NollR Kulkarni
Jan 1, 1987·Chromosoma·Y KanedaY Okada
Oct 1, 1987·Archives of Disease in Childhood·A WillR F Stevens
Aug 20, 1987·Journal of Molecular Biology·M Kozak
Jan 1, 1986·The Biochemical Journal·S H ChengB Winchester
Jun 1, 1972·The Biochemical Journal·J D HockingR D Batt
Jan 1, 1982·Acta Neuropathologica·C R HuxtableS U Walkley
Sep 1, 1980·The Biochemical Journal·L J BurdittW F Blakemore
Apr 12, 1994·Proceedings of the National Academy of Sciences of the United States of America·S U WalkleyS Wurzelmann
Apr 15, 1994·Biochemical and Biophysical Research Communications·V L Nebes, M C Schmidt
Nov 8, 1996·The Journal of Biological Chemistry·Y F LiaoK W Moremen
May 1, 1997·Human Molecular Genetics·O NilssenO K Tollersrud
Jun 1, 1997·Genomics·H M RiiseI Ceccherini
Jun 1, 1997·European Journal of Biochemistry·O K TollersrudO Nilssen
Nov 14, 1997·The Biochemical Journal·T BeccariA Orlacchio
Nov 25, 1997·Gene·N WakamatsuH Kawai
Feb 7, 1998·The Biochemical Journal·T BergO Nilssen
Aug 26, 1998·The Journal of Pediatrics·D A WallS Kotagal
Oct 3, 1998·American Journal of Human Genetics·Y GotodaT Matsumoto
Jan 23, 1999·American Journal of Human Genetics·T BergO Nilssen
Jul 13, 1999·Human Molecular Genetics·S StinchiP Saftig
Aug 14, 1999·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·J R AraC Calderón
Oct 8, 1999·Bioscience Reports·T BeccariA Orlacchio
Dec 14, 1999·Pediatric Research·A C CrawleyJ J Hopwood
Nov 21, 2000·Lancet·E ShapiroP Aubourg
Apr 18, 2002·Biochimica Et Biophysica Acta·Thomas Berg, John J Hopwood
Aug 6, 2003·Bone Marrow Transplantation·M H AlbertI Schmid
Feb 5, 2004·European Journal of Pediatrics·Maki UrushiharaYasuhiro Kuroda
Feb 10, 2004·Journal of Inherited Metabolic Disease·T BeccariA Orlacchio
May 6, 2004·The Journal of Pediatrics·Satkiran S GrewalCharles Peters
May 7, 2004·The New England Journal of Medicine·Susan L StabaJoanne Kurtzberg
Jul 23, 2004·Human Molecular Genetics·Diego Prieto RocesKurt von Figura
Sep 24, 2004·British Journal of Haematology·Tracey A O'BrienK Scott Baker
Jan 14, 2005·Glycobiology·Bryan Winchester
Feb 4, 2005·American Journal of Medical Genetics. Part a·Stuart J SwiedlerCheri Piscia-Nichols
Feb 16, 2005·Human Mutation·Michele SbaragliTommaso Beccari
Jul 1, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Wing C LeeChristopher B Eckman
Sep 16, 2005·Proceedings of the National Academy of Sciences of the United States of America·Carole VoglerWilliam S Sly
Mar 21, 2006·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Sandhya KharbandaK Scott Baker
Jun 30, 2006·Molecular Genetics and Metabolism·Allison C CrawleyJohn J Hopwood
Aug 22, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·M G PittisT Beccari
Apr 4, 2007·Revue neurologique·G CastelnovoP Labauge
Jul 25, 2007·Proceedings of the National Academy of Sciences of the United States of America·Akihiko UrayamaWilliam S Sly
Nov 6, 2007·Developmental Medicine and Child Neurology·Michael J LyonsKenton R Holden
Jul 25, 2008·Orphanet Journal of Rare Diseases·Dag Malm, Øivind Nilssen
Aug 21, 2008·Human Molecular Genetics·Judith BlanzPaul Saftig
Jan 29, 2009·Molecular Therapy : the Journal of the American Society of Gene Therapy·Ulrich MatznerVolkmar Gieselmann
Feb 19, 2010·Journal of Inherited Metabolic Disease·A A BroomfieldJ E Wraith
Citations
Mar 7, 2019·PloS One·Caio Raony Farina SilveiraAna Paula Lepique
Jun 11, 2020·Cells·Brianna M NaumchikTroy C Lund
Nov 20, 2019·JIMD Reports·Sara S CatheyLucia Horowitz
Aug 1, 2019·Pediatric Rheumatology Online Journal·Irit TiroshAsaf Vivante
Apr 11, 2020·International Journal of Molecular Sciences·Bernadette Breiden, Konrad Sandhoff
Sep 10, 2020·JIMD Reports·Lucia SantoroCarlo Catassi
Jan 16, 2021·Therapeutic Advances in Ophthalmology·James E Davison
Dec 9, 2020·Clinical Dysmorphology·Sapna SandalRatna Dua Puri
Dec 16, 2020·Molecular Genetics and Metabolism·Jitka MajovskaPetr Dusek
Apr 14, 2021·Orphanet Journal of Rare Diseases·Eva M M Hoytema van KonijnenburgClara D M van Karnebeek
Jul 20, 2021·Carbohydrate Research·Zheng Yang LeeJhi Biau Foo
Apr 25, 2019·Journal of Medicinal Chemistry·Rocío Rísquez-CuadroCarmen Ortiz Mellet