References
Apr 1, 1976·The Journal of Clinical Investigation·J SinghD Tavella
Jul 1, 1992·Statistics in Medicine·T J Cole, P J Green
Sep 1, 1992·The Journal of Clinical Investigation·S FukudaY Hanyu
Aug 1, 1990·Human Genetics·R B LowryN Y Thunem
Apr 1, 1986·Clinical Genetics·M BeckJ Spranger
Sep 1, 1986·Clinical Genetics·D R WittJ E Allanson
Feb 1, 1987·American Journal of Medical Genetics·M G Butler, F J Meaney
Apr 10, 1995·Genomics·T HoriT Horiuchi
Mar 1, 1995·Human Molecular Genetics·T OgawaT Orü
Jan 7, 1998·Human Genetics·Z KatoN Kondo
Jan 24, 1998·Human Genetics·J Nelson
Apr 1, 1998·Human Mutation·N YamadaT Orii
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Sep 10, 1999·Human Genetics·B J PoorthuisO P van Diggelen
Dec 10, 1999·American Journal of Medical Genetics·M ClementiR Tenconi
Jan 5, 2000·Pediatrics·D A ApplegarthR B Lowry
Sep 13, 2000·American Journal of Medical Genetics·R C MarinescuJ Overhauser
May 1, 2001·Acta Orthopaedica Scandinavica·T KanazawaK Sukegawa
Jun 19, 2001·International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity·K NysomK F Michaelsen
Jan 5, 2002·Pediatrics·Cynthia L OgdenClifford L Johnson
Jan 15, 2002·Health Economics·Jack Dowie
Apr 27, 2002·American Journal of Medical Genetics·Gurkan ErkulaReed E Pyeritz
Jul 26, 2002·Archives of Disease in Childhood·A MyrelidG Annerén
Nov 21, 2002·Human Mutation·Mugen TerziogluSerap Emre
May 2, 2003·Human Genetics·Adriana Maria MontañoNaomi Kondo
Dec 20, 2003·European Journal of Human Genetics : EJHG·Rui PintoM C Sá Miranda
Nov 16, 2005·Human Mutation·Shunji TomatsuTadao Orii
Jan 26, 2006·Journal of Inherited Metabolic Disease·F BaehnerM Beck
Feb 3, 2006·International Journal of Clinical Practice·A GawlikE Malecka-Tendera
Jul 14, 2006·Molecular Genetics and Metabolism·Shunji TomatsuAkihiko Noguchi
Oct 14, 2006·American Journal of Human Biology : the Official Journal of the Human Biology Council·S M T Ayatollahi, S Pourahmad
Feb 16, 2007·Archives of Disease in Childhood·N D T MartinM A Preece
Mar 10, 2007·Journal of Inherited Metabolic Disease·A M MontañoT Orii
Jun 30, 2007·Bone·Helen OliverUNKNOWN Hertfordshire Cohort Study Group
Sep 19, 2007·Journal of Inherited Metabolic Disease·A M MontañoS Tomatsu
Citations
Jun 25, 2010·Journal of Human Genetics·Zheng WangShangzhi Huang
Oct 21, 2011·Biochemistry Research International·Maria Francisca CoutinhoSandra Alves
Jul 3, 2013·BMC Research Notes·Lidia Perenc
Jul 28, 2011·Biomarker Insights·Jonathan P HintzeTadao Orii
Oct 11, 2013·Journal of Inherited Metabolic Disease·Paul R HarmatzCeleste Decker
Jan 29, 2010·Journal of Inherited Metabolic Disease·Shunji TomatsuTadao Orii
Feb 15, 2012·European Journal of Medical Genetics·Laurence PerrinAlain Verloes
May 26, 2009·Human Genetics·Tatiana I AxenovichY S Aulchenko
Nov 1, 2013·Journal of Inherited Metabolic Disease·J de RuijterF A Wijburg
Jan 29, 2014·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Enrique GarridoChristopher I Adams
Oct 11, 2015·Molecular Genetics and Metabolism·Hiromasa YabeShunji Tomatsu
Oct 4, 2015·Molecular Genetics and Metabolism·Shunji TomatsuMary Theroux
Jan 17, 2015·Molecular Genetics and Metabolism Reports·Yasutsugu ChinenNobuyuki Hyakuna
Jun 24, 2014·Molecular Genetics and Metabolism Reports·Pravin PatelShunji Tomatsu
Oct 7, 2014·Molecular Genetics and Metabolism·Christian J HendrikszChristine Haller
Apr 24, 2012·Molecular Genetics and Metabolism·Sonia PajaresMa José Coll
Jul 9, 2014·Journal of Children's Orthopaedics·Klane K WhiteWilliam G Mackenzie
Aug 9, 2011·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A OulahianeA Gaouzi
Sep 4, 2015·Pediatric Research·Simon A JonesPaul Harmatz
Feb 13, 2013·American Journal of Medical Genetics. Part a·Hyung-Doo ParkDong-Kyu Jin
Oct 28, 2014·American Journal of Medical Genetics. Part a·Christian J HendrikszRavi Savarirayan
Sep 25, 2014·American Journal of Medical Genetics. Part a·Abdul Mueed BidcholKatta Mohan Girisha
Aug 20, 2014·Human Mutation·Amelia MorroneNicole Miller
Jan 15, 2013·Gene·Francyne KubaskiSandra Leistner-Segal
Jul 24, 2013·Molecular Genetics and Metabolism·Vũ Chí DũngTadao Orii
Mar 5, 2013·Molecular Genetics and Metabolism·Paul HarmatzCeleste Decker
May 15, 2013·Molecular Genetics and Metabolism·C J HendrikszS Tomatsu
Jun 29, 2015·Molecular Genetics and Metabolism·Francyne KubaskiThomas H Shaffer
May 20, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Lorne A Clarke, Carla E M Hollak
Feb 24, 2015·Biochimica Et Biophysica Acta·Bruna DonidaCarmen Regla Vargas
Apr 15, 2014·Molecular Genetics and Metabolism·A MorroneN Miller
May 11, 2016·Molecular Genetics and Metabolism·Eriko YasudaShunji Tomatsu
Jun 15, 2016·European Journal of Internal Medicine·John MitchellKlane White
Sep 10, 2016·PloS One·Christoph KampmannChristiane M Wiethoff
Oct 21, 2016·Molecular Genetics and Metabolism Reports·J Do CaoF Feillet
Nov 20, 2016·Expert Review of Clinical Pharmacology·Christian J Hendriksz
Jul 27, 2014·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·G Baujat, V Valayannopoulos
Dec 12, 2012·Korean journal of pediatrics·Na Hee LeeDong Kyu Jin
Oct 23, 2019·American Journal of Medical Genetics. Part a·David ViskochilNathalie Guffon
Jan 4, 2020·Glycobiology·Roger LawrenceBrett E Crawford
Feb 7, 2020·International Journal of Molecular Sciences·Akari Nakamura-UtsunomiyaSatoshi Okada
Feb 23, 2020·Diagnostics·Sharon BarakDafna Guttman
Feb 26, 2020·Diagnostics·Agnieszka Różdżyńska-ŚwiątkowskaAnna Tylki-Szymańska
Mar 19, 2020·Orphanet Journal of Rare Diseases·Raymond Y WangAdriana M Montaño
May 3, 2019·Orphanet Journal of Rare Diseases·Nicole M MuscholSandra R Breyer
Dec 30, 2014·Human Mutation·Anna CaciottiAmelia Morrone
Nov 21, 2014·World Journal of Pediatrics : WJP·Agnieszka Różdżyńska-ŚwiątkowskaAnna Tylki-Szymańska
Aug 3, 2019·Italian Journal of Pediatrics·A CattoniR Parini
Jun 17, 2020·Orphanet Journal of Rare Diseases·Ivan IvanovskiLivia Garavelli
Oct 1, 2020·Orphanet Journal of Rare Diseases·Lina MoisanJohn J Mitchell