David S Rosenblatt

David S Rosenblatt

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David S Rosenblatt

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Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Genet Med 2019 Aug 29. Epub 2019 Aug 29.

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

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http://dx.doi.org/10.1038/s41436-019-0640-9DOI Listing
August 2019

A RaDiCAL gene hunt.

J Taibah Univ Med Sci 2017 Jun 19;12(3):194-198. Epub 2017 Jan 19.

Department of Human Genetics, McGill University, Montreal, Québec, Canada.

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http://dx.doi.org/10.1016/j.jtumed.2016.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694981PMC
June 2017

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the gene.

Mol Genet Metab Rep 2016 Dec 24;9:19-24. Epub 2016 Sep 24.

Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2016.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037260PMC
December 2016

Confounding factors in identification of disease-resilient individuals.

Nat Biotechnol 2016 11;34(11):1103-1104

Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/nbt.3684DOI Listing
November 2016

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Mol Genet Metab 2016 08 20;118(4):264-71. Epub 2016 May 20.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.014DOI Listing
August 2016

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

Biochimie 2016 Jul 6;126:3-5. Epub 2016 May 6.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2016.05.001DOI Listing
July 2016

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000737

Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;; Department of Pediatrics, McGill University, Montreal, Quebec H4A 3J1, Canada;; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 0C7, Canada.

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http://dx.doi.org/10.1101/mcs.a000737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853519PMC
May 2016

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.

Rare Dis 2015 24;3(1):e1112479. Epub 2015 Nov 24.

Division of Nutritional Sciences; Cornell University; Ithaca, NY USA; Graduate Field of Biochemistry; Molecular and Cell Biology; Cornell University; Ithaca, NY USA.

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http://dx.doi.org/10.1080/21675511.2015.1112479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817835PMC
April 2016

Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.

Mol Membr Biol 2014 Nov-Dec;31(7-8):250-61

Department of Microbiology and Immunology, McGill University , Montreal , Canada .

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http://dx.doi.org/10.3109/09687688.2014.990998DOI Listing
August 2015

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.

Proc Natl Acad Sci U S A 2015 Jan 29;112(2):400-5. Epub 2014 Dec 29.

Division of Nutritional Sciences and Graduate Field of Biochemistry, Molecular and Cell Biology, Cornell University, Ithaca, NY 14853;

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http://dx.doi.org/10.1073/pnas.1414555112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299200PMC
January 2015

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Dev Biol 2014 Dec 2;396(1):94-106. Epub 2014 Oct 2.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA; Section of Genetics, University of Colorado, School of Medicine, Aurora, CO 80045, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2014.09.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391465PMC
December 2014

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.

Thromb J 2014 16;12(1):30. Epub 2014 Dec 16.

The McGill University Health Centre, Montreal, Canada ; Royal Victoria Hospital, 687 Pine Avenue West, Rm M4.72, Montreal, QC H3A 1A1 Canada.

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http://dx.doi.org/10.1186/s12959-014-0030-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266910PMC
December 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.

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

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

Pediatr Neurol 2014 Aug 13;51(2):266-70. Epub 2014 Apr 13.

Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.005DOI Listing
August 2014

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

JAMA Neurol 2014 Jul;71(7):901-4

Hebrew University-Hadassah School of Medicine, Jerusalem, Israel12Department of Child and Adolescent Psychiatry, Jerusalem Mental Health Center, Eitanim Psychiatric Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jamaneurol.2014.116DOI Listing
July 2014

The Mmachc gene is required for pre-implantation embryogenesis in the mouse.

Mol Genet Metab 2014 Jul 14;112(3):198-204. Epub 2014 May 14.

Department of Human Genetics, McGill University, 1205 Avenue Docteur Penfield, N5/13, Montreal, Quebec H3A 1B1, Canada; Department of Pediatrics, McGill University, Research Institute, Place Toulon, 4060 Ste. Catherine West PT 420, Montreal Children's Hospital, Montreal, Quebec H3Z 2Z3, Canada; Department of Anatomy and Cell Biology, McGill University, Strathcona Anatomy and Dentistry Building, 3640 University Street, Montreal, Quebec H3A2B2, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.002DOI Listing
July 2014

Vitamin B12 deficiency in inflammatory bowel disease: prevalence, risk factors, evaluation, and management.

Inflamm Bowel Dis 2014 Jun;20(6):1120-8

*Department of Medicine, McGill University, Montreal, Quebec, Canada; †Department of Internal Medicine, Jewish General Hospital, Montreal, Quebec, Canada; ‡Division of Gastroenterology, McGill University Health Center, Montreal, Quebec, Canada; §Division of Gastroenterology, Jewish General Hospital, Montreal, Quebec, Canada; ‖Departments of Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada; and ¶Division of Hematology, McGill University Health Center, Montreal, Quebec, Canada.

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http://pdfs.journals.lww.com/ibdjournal/2014/06000/Vitamin_B
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MIB.0000000000000024DOI Listing
June 2014

Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?

Mol Genet Metab 2013 Sep-Oct;110(1-2):1-2. Epub 2013 Jun 7.

Department of Human Genetics, McGill University, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.001DOI Listing
March 2014

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Hum Mol Genet 2013 Nov 3;22(22):4591-601. Epub 2013 Jul 3.

Inserm U954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, Medical Faculty of Nancy University and University Hospital Centre, Nancy, France.

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http://dx.doi.org/10.1093/hmg/ddt308DOI Listing
November 2013

Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.

Nutrients 2013 Sep 10;5(9):3531-50. Epub 2013 Sep 10.

Department of Human Genetics, McGill University, 1205 Avenue Docteur Penfield, N5/13,Montreal, Quebec, Canada H3A 1B1.

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http://dx.doi.org/10.3390/nu5093531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798919PMC
September 2013

Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.

Pediatr Nephrol 2013 Jul 19;28(7):1135-9. Epub 2013 Mar 19.

Department of Pediatrics, Columbia Medical Center, 630 W 168th St, New York, NY 10032, USA.

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http://dx.doi.org/10.1007/s00467-013-2443-6DOI Listing
July 2013

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

Pediatrics 2013 Jul 17;132(1):e257-61. Epub 2013 Jun 17.

Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1542/peds.2013-0105DOI Listing
July 2013

Lessons in biology from patients with inborn errors of vitamin B12 metabolism.

Biochimie 2013 May 10;95(5):1019-22. Epub 2013 Feb 10.

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

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https://linkinghub.elsevier.com/retrieve/pii/S03009084130003
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http://dx.doi.org/10.1016/j.biochi.2013.01.013DOI Listing
May 2013

ARHGDIA: a novel gene implicated in nephrotic syndrome.

J Med Genet 2013 May 22;50(5):330-8. Epub 2013 Feb 22.

Department of Pediatrics, Division of Nephrology, Montreal Children's Hospital and McGill University, 2300, rue Tupper-E222, Montreal, Quebec, Canada H3H 1P3.

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http://dx.doi.org/10.1136/jmedgenet-2012-101442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625828PMC
May 2013

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Mol Genet Metab 2013 Mar 31;108(3):190-4. Epub 2012 Dec 31.

Department of Paediatrics, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120073
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http://dx.doi.org/10.1016/j.ymgme.2012.12.007DOI Listing
March 2013

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

Mol Genet Metab 2013 Feb 7;108(2):112-8. Epub 2012 Dec 7.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.11.284DOI Listing
February 2013

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Pediatrics 2013 Feb 6;131(2):e629-34. Epub 2013 Jan 6.

Children's Hospital of Philadelphia, 3550 Market St, 3rd Floor, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1542/peds.2012-0899DOI Listing
February 2013

Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.

Mol Genet Metab 2012 Nov 11;107(3):352-62. Epub 2012 Jul 11.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.001DOI Listing
November 2012

The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.

Mol Genet Metab 2012 Nov 10;107(3):368-74. Epub 2012 Sep 10.

Department of Human Genetics, McGill University, 1205 Avenue Docteur Penfield, N5/13, Montreal, Quebec, Canada H3A 1B1.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.009DOI Listing
November 2012

Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

J Inherit Metab Dis 2012 Jul 23;35(4):665-70. Epub 2011 Nov 23.

The Hess B and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone, and Department of Human Genetics, McGill University Health Centre, 1650 Cedar Avenue, Room L3-319, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s10545-011-9418-1DOI Listing
July 2012

Exome and whole-genome sequencing for gene discovery: the future is now!

Hum Mutat 2012 Apr;33(4):591-2

Rare Disease Consortium for Autosomal Loci, Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/humu.22055DOI Listing
April 2012

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.

Pediatrics 2011 Dec 7;128(6):e1636-40. Epub 2011 Nov 7.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1542/peds.2010-3518DOI Listing
December 2011

A RaDiCAL approach to gene discovery.

J Med Genet 2011 Sep 27;48(9):577-8. Epub 2011 Jun 27.

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http://dx.doi.org/10.1136/jmedgenet-2011-100227DOI Listing
September 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

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

J Med Genet 2011 Sep 3;48(9):590-2. Epub 2011 Aug 3.

Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100286DOI Listing
September 2011

Expression of Mmachc and Mmadhc during mouse organogenesis.

Mol Genet Metab 2011 Aug 17;103(4):401-5. Epub 2011 Apr 17.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 1B1.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.004DOI Listing
August 2011

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Mol Genet Metab 2011 Jul 24;103(3):226-39. Epub 2011 Mar 24.

Department of Cell Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110603PMC
July 2011

Experience over fifteen years with a protocol for predictive testing for Huntington disease.

Mol Genet Metab 2011 Apr 13;102(4):494-504. Epub 2010 Dec 13.

The Hess B and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2010.12.001DOI Listing
April 2011

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

Mol Genet Metab 2011 Apr 14;102(4):505-7. Epub 2011 Jan 14.

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

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100003
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http://dx.doi.org/10.1016/j.ymgme.2011.01.002DOI Listing
April 2011

Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.

Mol Genet Metab 2011 Feb 21;102(2):139-48. Epub 2010 Oct 21.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.011DOI Listing
February 2011

Inborn errors of cobalamin absorption and metabolism.

Am J Med Genet C Semin Med Genet 2011 Feb 10;157C(1):33-44. Epub 2011 Feb 10.

Department of Human Genetics, McGill University, Canada.

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http://dx.doi.org/10.1002/ajmg.c.30288DOI Listing
February 2011

Vitamin B(12) and birth defects.

Mol Genet Metab 2009 Sep-Oct;98(1-2):166-72. Epub 2009 Jun 11.

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

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http://dx.doi.org/10.1016/j.ymgme.2009.06.004DOI Listing
November 2009

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product.

Mol Genet Metab 2009 Aug 16;97(4):260-6. Epub 2009 Apr 16.

Department of Cell Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709701PMC
August 2009

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Mol Genet Metab 2009 Apr 5;96(4):261-7. Epub 2009 Feb 5.

Department of Human Genetics, McGill University, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Ave, Room L3.319, Montreal, Que., Canada H3G 1A4.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.011DOI Listing
April 2009

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.

Mol Genet Metab 2008 Sep-Oct;95(1-2):104-6. Epub 2008 Jul 7.

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

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http://dx.doi.org/10.1016/j.ymgme.2008.05.007DOI Listing
November 2008

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.

J Pediatr 2008 May;152(5):731-3

Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2008.01.023DOI Listing
May 2008

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.

Hum Mutat 2007 Oct;28(10):1028-33

Redox Biology Center and Biochemistry Department, University of Nebraska-Lincoln, Lincoln, Nebraska 68588-0664, USA.

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http://dx.doi.org/10.1002/humu.20563DOI Listing
October 2007

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Am J Med Genet A 2007 Oct;143A(20):2430-4

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31932
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http://dx.doi.org/10.1002/ajmg.a.31932DOI Listing
October 2007

Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice.

Hum Mol Genet 2006 Dec 18;15(23):3387-93. Epub 2006 Oct 18.

Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1093/hmg/ddl415DOI Listing
December 2006

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Mol Genet Metab 2006 Aug 22;88(4):315-21. Epub 2006 May 22.

Department of Human Genetics and Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Que., Canada.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.001DOI Listing
August 2006

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

Mol Genet Metab 2006 Apr 24;87(4):315-22. Epub 2006 Jan 24.

Department of Biochemistry and Molecular Biology, University of Calgary, Heritage Medical Research Building, AB, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2005.12.003DOI Listing
April 2006

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Mol Genet Metab 2005 Sep-Oct;86(1-2):160-71

Department of Human Genetics, McGill University, Montreal, Que., Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500232
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http://dx.doi.org/10.1016/j.ymgme.2005.07.018DOI Listing
January 2006

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Mol Genet Metab 2005 Jun 1;85(2):115-20. Epub 2005 Apr 1.

Department of Human Genetics, McGill University, Montreal, Que., Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500081
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http://dx.doi.org/10.1016/j.ymgme.2005.03.001DOI Listing
June 2005

Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects.

Physiol Genomics 2005 May 1;21(3):404-10. Epub 2005 Mar 1.

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1152/physiolgenomics.00199.2004DOI Listing
May 2005

Update on cobalamin, folate, and homocysteine.

Hematology Am Soc Hematol Educ Program 2003 :62-81

New York Methodist Hospital, Brooklyn, NY 11215, USA.

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http://asheducationbook.hematologylibrary.org/content/2003/1
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September 2004

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.

Br J Haematol 2003 Dec;123(5):915-20

Laboratoire de Pathologie Cellulaire et Moléculaire en Nutrition, EMI-INSERM 0014, Faculté de Médecine de Nancy, Cedex, France.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04685.xDOI Listing
December 2003

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.

J Perinatol 2003 Jul-Aug;23(5):384-6

Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-2998, USA.

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http://dx.doi.org/10.1038/sj.jp.7210955DOI Listing
September 2003

Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency.

N Engl J Med 2003 Jul;349(1):45-50

Department of Anesthesiology, University of Wisconsin Medical School, Madison, USA.

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http://dx.doi.org/10.1056/NEJMoa021867DOI Listing
July 2003

Genetic and molecular control of folate-homocysteine metabolism in mutant mice.

Mamm Genome 2002 May;13(5):259-67

Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1007/s00335-001-3054-2DOI Listing
May 2002