James J Pitt

James J Pitt

UNVERIFIED PROFILE

Are you James J Pitt?   Register this Author

Register author
James J Pitt

James J Pitt

Publications by authors named "James J Pitt"

Are you James J Pitt?   Register this Author

22Publications

662Reads

20Profile Views

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

J Pediatr Endocrinol Metab 2018 Mar;31(4):451-459

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2017-0501DOI Listing
March 2018

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

J Inherit Metab Dis 2015 May 16;38(3):459-66. Epub 2014 Dec 16.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9801-9DOI Listing
May 2015

Screening for cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2015 Mar 19;38(2):369. Epub 2014 Sep 19.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-014-9765-9
Publisher Site
http://dx.doi.org/10.1007/s10545-014-9765-9DOI Listing
March 2015

4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

JIMD Rep 2015 22;15:1-6. Epub 2014 Feb 22.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270872PMC
December 2014

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Dev Med Child Neurol 2014 May 23;56(5):498-502. Epub 2013 Nov 23.

Department of Neurology, The Royal Children's Hospital, Melbourne, Vic, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12346DOI Listing
May 2014

Newborn screening for guanidinoacetate methyl transferase deficiency.

Mol Genet Metab 2014 Mar 15;111(3):303-304. Epub 2014 Jan 15.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.01.005DOI Listing
March 2014

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.

Dev Med Child Neurol 2013 Nov 13;55(11):1060-4. Epub 2013 Aug 13.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Vic., Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12244DOI Listing
November 2013

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.

PLoS One 2012 14;7(9):e44974. Epub 2012 Sep 14.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne Department of Paediatrics, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0044974PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443245PMC
February 2013

Mouse models for methylmalonic aciduria.

PLoS One 2012 9;7(7):e40609. Epub 2012 Jul 9.

Metabolic Research, Murdoch Childrens Research Institute, Department of Paediatrics University of Melbourne, Royal Children's Hospital, Parkville, Australia.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0040609PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392231PMC
January 2013

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model.

Biochem Biophys Res Commun 2012 Oct 12;427(1):30-5. Epub 2012 Sep 12.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2012.08.134DOI Listing
October 2012

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Newborn screening.

Authors:
James J Pitt

Clin Biochem Rev 2010 May;31(2):57-68

VCGS Pathology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Vic. 3052, Australia.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874432PMC
May 2010

Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry.

Authors:
James J Pitt

Clin Biochem Rev 2009 Feb;30(1):19-34

VCGS Pathology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Vic. 3052, Australia.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643089PMC
February 2009

High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry.

Authors:
James J Pitt

Clin Chim Acta 2007 May 24;380(1-2):81-8. Epub 2007 Jan 24.

VCGS Pathology, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2007.01.016DOI Listing
May 2007

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Mol Genet Metab 2006 Dec 17;89(4):332-8. Epub 2006 Aug 17.

Department of Clinical Biochemistry, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.06.009DOI Listing
December 2006

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.

Clin Chem 2005 Mar 22;51(3):610-7. Epub 2004 Dec 22.

Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2004.043265DOI Listing
March 2005

Protein disulfide bond determination by mass spectrometry.

Mass Spectrom Rev 2002 May-Jun;21(3):183-216

CSIRO Health Sciences and Nutrition, 343 Royal Parade, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mas.10025DOI Listing
January 2003

Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry.

Clin Chem 2002 Nov;48(11):1970-80

Genetic Health Services Victoria, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville 3052, Australia.

View Article

Download full-text PDF

Source
November 2002

Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.

Am J Obstet Gynecol 2002 Jul;187(1):225-6

Metabolic Service, Genetic Health Services, Murdoch Childrens Research Institute, Parkville, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/mob.2002.119637DOI Listing
July 2002