Publications by authors named "Nancy Braverman"

81Publications

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Nov 3;22(11):1735-1742. Epub 2020 Aug 3.

Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41436-020-0909-zDOI Listing
November 2020

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.

Dis Model Mech 2020 01 24;13(1). Epub 2020 Jan 24.

Department of Human Genetics and Pediatrics, Research Institute of the McGill University Health Center and McGill University, Montreal, QC H4A3J1, Canada

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http://dx.doi.org/10.1242/dmm.042499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994958PMC
January 2020

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 04 11;22(4):686-697. Epub 2019 Dec 11.

Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41436-019-0713-9DOI Listing
April 2020

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Am J Med Genet A 2020 03 25;182(3):579-583. Epub 2019 Nov 25.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.61413DOI Listing
March 2020

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder.

Exp Eye Res 2019 09 27;186:107713. Epub 2019 Jun 27.

Department of Human Genetics, McGill University, Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Quebec, H4A 3J1, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Quebec, H4A 3J1, Canada; Department of Pediatrics, 1001 Decarie Boulevard, Montreal, Quebec, H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2019.107713DOI Listing
September 2019

Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features.

J Neuropsychiatry Clin Neurosci Summer 2019;31(3):272-275. Epub 2019 Mar 19.

The Department of Medical Genetics, McGill University Health Centre, Montreal (Accogli, Yang, Trakadis); the Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal (Accogli); the DINOGMI-Università di Genova, Italy (Accogli); the Douglas Mental Health University Institute, Montreal (Blain-Juste, Shah); and the Department of Human Genetics, McGill University, Montreal (Braverman, Trakadis).

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http://dx.doi.org/10.1176/appi.neuropsych.18100228DOI Listing
March 2020

Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome.

Am J Med Genet A 2019 01 20;179(1):130-133. Epub 2018 Dec 20.

Department of Pediatrics and Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.60691DOI Listing
January 2019

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Eur J Med Genet 2019 Apr 31;62(4):254-258. Epub 2018 Jul 31.

Division of Nephrology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.024DOI Listing
April 2019

Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism.

Biochim Biophys Acta Rev Cancer 2018 08 6;1870(1):103-121. Epub 2018 Aug 6.

Lady Davis Institute, McGill University, Jewish General Hospital, 3755 Chemin de la Côte-Sainte-Catherine, Montréal, QC H3T 1E2, Canada; Department of Oncology, McGill University, 5100 de Maisonneuve Blvd. West, Suite 720, Montréal H4A 3T2, QC, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0304419X183005
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http://dx.doi.org/10.1016/j.bbcan.2018.07.004DOI Listing
August 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Genet Med 2018 10 8;20(10):1274-1283. Epub 2018 Feb 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2017.262DOI Listing
October 2018

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Hum Mutat 2018 04 16;39(4):527-536. Epub 2018 Jan 16.

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/humu.23394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388160PMC
April 2018

Peroxisome biogenesis disorders.

Transl Sci Rare Dis 2016 Nov 7;1(2):111-144. Epub 2016 Nov 7.

McGill University Department of Human Genetics and Pediatrics, and The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.3233/TRD-160003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678237PMC
November 2016

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

J Pediatr Gastroenterol Nutr 2018 02;66(2):e57

Department of Pediatric Gastroenterology, Emma Children's hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000001763DOI Listing
February 2018

Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.

Immunity 2017 07;47(1):93-106.e7

Department of Cell Biology, University of Alberta, Edmonton, Alberta T6G 2H7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2017.06.016DOI Listing
July 2017

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.

Autophagy 2017 May;13(5):868-884

a Cell Biology Program , Hospital for Sick Children, Peter Gilgan Centre for Research and Learning , Toronto , ON , Canada.

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http://dx.doi.org/10.1080/15548627.2017.1291470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446072PMC
May 2017

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.

Am J Med Genet A 2017 Jun 21;173(6):1514-1520. Epub 2017 Apr 21.

Department of Medical Genetics and Pediatrics, McGill University Health Centre, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38208DOI Listing
June 2017

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2017 Jan 12;173(1):108-113. Epub 2016 Sep 12.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.37961DOI Listing
January 2017

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab Rep 2016 Jun 23;7:94-5. Epub 2016 May 23.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901166PMC
June 2016

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab 2016 Jan 24;117(1):33-7. Epub 2015 Nov 24.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153007
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http://dx.doi.org/10.1016/j.ymgme.2015.11.009DOI Listing
January 2016

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2016 Jan 26;170A(1):270-2. Epub 2015 Sep 26.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.37404DOI Listing
January 2016

Ether lipid deficiency does not cause neutropenia or leukopenia in mice and men.

Cell Metab 2015 May;21(5):650-1

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, 1090 Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885659PMC
May 2015

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

J Clin Res Pediatr Endocrinol 2015 Mar;7(1):69-72

Dicle University Faculty of Medicine, Department of Medical Genetics, Diyarbakır, Turkey. E-mail:

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http://dx.doi.org/10.4274/jcrpe.1835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439895PMC
March 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

J Inherit Metab Dis 2015 Sep 8;38(5):839-46. Epub 2015 Jan 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s10545-014-9802-8
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http://dx.doi.org/10.1007/s10545-014-9802-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496322PMC
September 2015

Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.

Biochim Biophys Acta 2015 Feb 15;1851(2):117-28. Epub 2014 Nov 15.

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13881981140024
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http://dx.doi.org/10.1016/j.bbalip.2014.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331674PMC
February 2015

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Neurogenetics 2014 Aug 21;15(3):161-4. Epub 2014 Jun 21.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada,

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http://dx.doi.org/10.1007/s10048-014-0412-2DOI Listing
August 2014

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Mol Genet Metab 2014 Apr 23;111(4):522-532. Epub 2014 Jan 23.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger, 707 N. Broadway, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901203PMC
April 2014

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Dev Disabil Res Rev 2013 ;17(3):187-96

Department of Human Genetics, McGill University, Quebec, Canada.

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http://dx.doi.org/10.1002/ddrr.1113DOI Listing
March 2014

Case 1: Recurrent acute liver dysfunction in a 19-month-old boy.

Paediatr Child Health 2012 May;17(5):247-8

Department of Medical Genetics, McGill University Health Centre, and Department of Human Genetics, McGill University.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381916PMC
http://dx.doi.org/10.1093/pch/17.5.247DOI Listing
May 2012

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Genet Med 2013 Aug 7;15(8):650-7. Epub 2013 Mar 7.

Department of Human Genetics, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/gim.2013.13DOI Listing
August 2013

Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

JIMD Rep 2012 6;2:97-102. Epub 2011 Sep 6.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, McGill University, 2300 Tupper, Montreal, QC, Canada, H3H 1P3,

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http://link.springer.com/content/pdf/10.1007%2F8904_2011_54.
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http://link.springer.com/10.1007/8904_2011_54
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http://dx.doi.org/10.1007/8904_2011_54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509846PMC
February 2013

Functions of plasmalogen lipids in health and disease.

Biochim Biophys Acta 2012 Sep 22;1822(9):1442-52. Epub 2012 May 22.

Department of Human Genetics and Pediatrics, McGill University-Montreal Childrens Hospital Research Institute, Montreal, Canada.

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http://dx.doi.org/10.1016/j.bbadis.2012.05.008DOI Listing
September 2012

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.

Am J Med Genet A 2011 Dec 3;155A(12):3160-3. Epub 2011 Nov 3.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Center, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.34331DOI Listing
December 2011

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Lipids Health Dis 2011 Oct 18;10:182. Epub 2011 Oct 18.

Dept, of Pharmacology, DeBusk College of Osteopathic Medicine, Lincoln Memorial University, 6965 Cumberland Gap Parkway, Harrogate, TN 37752, USA.

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http://dx.doi.org/10.1186/1476-511X-10-182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238230PMC
October 2011

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

J Med Genet 2011 Sep 23;48(9):602-5. Epub 2011 Jul 23.

Department of Medical Genetics, Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100230DOI Listing
September 2011

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Am J Med Genet A 2011 Aug 7;155A(8):1987-90. Epub 2011 Jul 7.

Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34094DOI Listing
August 2011

Diagnostic guidelines for newborns who screen positive in newborn screening.

Genet Med 2010 Dec;12(12 Suppl):S251-5

Department of Pediatrics, New York Medical College, Valhalla, New York, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d8bDOI Listing
December 2010

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Am J Med Genet A 2010 Jul;152A(7):1812-7

Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33489
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http://dx.doi.org/10.1002/ajmg.a.33489DOI Listing
July 2010

Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.

Proc Natl Acad Sci U S A 2010 Mar 8;107(12):5569-74. Epub 2010 Mar 8.

McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1073/pnas.0914960107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851769PMC
March 2010

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Mol Genet Metab 2010 Apr 11;99(4):408-16. Epub 2009 Dec 11.

Department of Human Genetics and Pediatrics, Montreal Children's Hospital Research Institute, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2009.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839039PMC
April 2010

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

Semin Arthritis Rheum 2010 Apr 24;39(5):410-6. Epub 2008 Dec 24.

Division of Rheumatology, Thomas Jefferson University Hospital, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.semarthrit.2008.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844477PMC
April 2010

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Mol Genet Metab 2008 Apr 21;93(4):363-70. Epub 2007 Dec 21.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.002DOI Listing
April 2008

Peroxisome biogenesis disorders.

Biochim Biophys Acta 2006 Dec 14;1763(12):1733-48. Epub 2006 Sep 14.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.bbamcr.2006.09.010DOI Listing
December 2006

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Pediatrics 2006 Aug 30;118(2):e514-21. Epub 2006 Jun 30.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children's Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1542/peds.2005-1307DOI Listing
August 2006

Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.

J Magn Reson Imaging 2006 Mar;23(3):404-7

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1002/jmri.20515DOI Listing
March 2006

Progressive cavitating leukoencephalopathy: a novel childhood disease.

Ann Neurol 2005 Dec;58(6):929-38

Neurogenetics Department, Kennedy Krieger Institute and the Johns Hopkins Medical Institutions, 707 N. Broadway, 5th Floor Tower, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1002/ana.20671DOI Listing
December 2005

Characteristic MR imaging changes in severe hypermethioninemic states.

AJNR Am J Neuroradiol 2005 Nov-Dec;26(10):2705-6

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February 2006

Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.

Arch Otolaryngol Head Neck Surg 2004 Dec;130(12):1423-6

Department of Otolaryngology-Head & Neck Surgery and McKusick-Nathans Institute for Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1001/archotol.130.12.1423DOI Listing
December 2004

Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Eur J Pediatr 2005 Apr 3;164(4):236-43. Epub 2004 Dec 3.

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

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http://dx.doi.org/10.1007/s00431-004-1591-xDOI Listing
April 2005

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Mol Genet Metab 2004 Nov;83(3):252-63

Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.08.008DOI Listing
November 2004

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.

Pflugers Arch 2004 Jul 14;448(4):438-44. Epub 2004 Apr 14.

Department of Pediatrics, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 112-8688, Tokyo, Japan.

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http://dx.doi.org/10.1007/s00424-004-1278-1DOI Listing
July 2004

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Mol Genet Metab 2003 May;79(1):6-16

NIMH/DIRP/LMB, Laboratory of Molecular Biology, National Institute of Mental Health, Building 36, Room 1B-08, 36 Convent Drive, MSC 4034, Bethesda, MD 20892-4034, USA.

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http://dx.doi.org/10.1016/s1096-7192(03)00066-0DOI Listing
May 2003

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Hum Mutat 2002 Oct;20(4):284-97

McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/humu.10124DOI Listing
October 2002

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

Am J Med Genet 2002 Feb;108(1):57-63

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.10186DOI Listing
February 2002