Publications by authors named "Julian Raiman"

41Publications

An uncommon cause of early infantile liver disease and raised chitotriosidase.

JIMD Rep 2020 Jul 15;54(1):22-24. Epub 2020 Apr 15.

Department of Hepatology Birmingham Women's and Children's Hospital NHS Trust UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358662PMC
July 2020

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.

Neurology 2019 05 12;92(20):e2321-e2328. Epub 2019 Apr 12.

From the Departments of Pediatrics (K.K., I.N., V.K., K.A.D., J.B.E., E.G.S.), Psychiatry (J.R.W., B.A.M., K.O.L.), and Genetics and Metabolism (C.B.W.), University of Minnesota Medical Center; Division of Biostatistics (K.D.R.), University of Minnesota School of Public Health, Minneapolis; Department of Psychology (E.G.M., J.R.), Hospital for Sick Children-Toronto, Ontario, Canada; Department of Human Genetics (N.A., S.C.), Emory University, Atlanta, GA; and Division of Gastroenterology and Nutrition (P.H.), UCSF Benioff Children's Hospital Oakland, San Francisco, CA. Dr. Kovac is now at the School of Medicine, Washington University in St. Louis, MO. Dr. Raiman is now at the Department of Inherited Metabolic Diseases, Birmingham Children's Hospital, UK. K.A. Delaney is now at Biomarin Pharmaceuticals, San Rafael, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598818PMC
May 2019

Outcome of Patients With Inherited Neurotransmitter Disorders.

Can J Neurol Sci 2018 09 15;45(5):571-576. Epub 2018 Aug 15.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

View Article

Download full-text PDF

Source
https://www.cambridge.org/core/product/identifier/S031716711
Publisher Site
http://dx.doi.org/10.1017/cjn.2018.266DOI Listing
September 2018

A 10-year-old girl with a fluctuating level of consciousness, ataxia and slurred speech.

Paediatr Child Health 2017 Jun 17;22(3):113-114. Epub 2017 Apr 17.

Department of Paediatrics, Division of Paediatric Medicine and the Paediatric Outcomes Research Team, Hospital for Sick Children, Toronto, Ontario, University of Toronto, Toronto, Ontario.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/pch/pxx038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804964PMC
June 2017

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Eur J Paediatr Neurol 2017 Jul 21;21(4):600-609. Epub 2017 Feb 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.02.006DOI Listing
July 2017

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Mol Genet Metab 2017 03 3;120(3):235-242. Epub 2017 Jan 3.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.12.014DOI Listing
March 2017

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.

Anal Chim Acta 2016 Sep 2;936:139-48. Epub 2016 Jul 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.aca.2016.06.054DOI Listing
September 2016

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Clinical Features of Lysosomal Acid Lipase Deficiency.

J Pediatr Gastroenterol Nutr 2015 Dec;61(6):619-25

*Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL †Department of Medicine, Addenbrooke's Hospital NHS Trust, Cambridge, UK ‡Medical Genetics Division, Stanford University, Stanford, CA §Department of Pediatrics, Regina Margherita Hospital, Turin, Italy ||Seattle Children's Hospital, Seattle, WA ¶Department of Vascular Medicine-Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands #New York-Presbyterian/Columbia University Medical Center, New York, NY **Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Czech Republic ††Departement de l'Enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneva, Switzerland ‡‡Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada §§Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute Genoa, Genova, Italy ||||Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK ¶¶Department of Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation, Salford, UK ##Screening Department, Institute of Mother and Child, Warsaw, Poland ***University of Minnesota, Minneapolis, MN †††Synageva BioPharma Corp, Lexington, MA ‡‡‡Hopital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959PMC
December 2015

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Mol Genet Metab 2014 Nov 21;113(3):171-6. Epub 2014 Sep 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.09.005DOI Listing
November 2014

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

JIMD Rep 2014 26;17:77-81. Epub 2014 Aug 26.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241196PMC
November 2014

Tachypnea of infancy as the first sign of Sanfilippo syndrome.

Pediatrics 2014 Sep 11;134(3):e884-8. Epub 2014 Aug 11.

Divisions of Respiratory Medicine, Department of Pediatrics and

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2013-2765DOI Listing
September 2014

An 8-year-old girl with a history of stiff and painful joints.

Pediatr Ann 2014 Aug;43(8):307-9

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/00904481-20140723-05DOI Listing
August 2014

Case 2: A teenager with nausea, vomiting and dysarthria.

Paediatr Child Health 2013 Dec;18(10):515-7

Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907344PMC
http://dx.doi.org/10.1093/pch/18.10.515aDOI Listing
December 2013

Complex II deficiency--a case report and review of the literature.

Am J Med Genet A 2013 Feb 15;161A(2):285-94. Epub 2013 Jan 15.

The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35714DOI Listing
February 2013

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Mol Genet Metab 2013 Jan 3;108(1):40-50. Epub 2012 Dec 3.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.11.282DOI Listing
January 2013

Late-onset ornithine transcarbamylase deficiency presenting with asymptomatic liver dysfunction.

J Pediatr Gastroenterol Nutr 2014 Jun;58(6):e55-7

*Division of Gastroenterology, Hepatology and Nutrition and SickKids Transplant Centre †Division of Clinical and Metabolic Genetics ‡Division of Pathology, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MPG.0b013e318282aa3bDOI Listing
June 2014

Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective.

J Pediatr Hematol Oncol 2011 Apr;33(3):216-20

Division of Haematology/Oncology/BMT, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0b013e3182050945DOI Listing
April 2011

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Mitochondrion 2011 Jan 30;11(1):191-9. Epub 2010 Oct 30.

Genetics and Genome Biology, The Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2010.09.008DOI Listing
January 2011

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.

Mol Genet Metab 2009 Dec 26;98(4):378-82. Epub 2009 Jul 26.

Genetics and Genome Biology, The Research Institute, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.07.012DOI Listing
December 2009

Glycogen storage disease type IX: High variability in clinical phenotype.

Mol Genet Metab 2007 Sep-Oct;92(1-2):88-99. Epub 2007 Aug 3.

Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook's Hospital, Cambridge, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192070020
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2007.06.007DOI Listing
November 2007

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Am J Med Genet A 2006 Jul;140(14):1542-52

Metabolism Research Programme, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31313DOI Listing
July 2006