Terttu Suormala

Terttu Suormala

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Terttu Suormala

Terttu Suormala

Publications by authors named "Terttu Suormala"

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36Publications

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Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Biochim Biophys Acta Mol Basis Dis 2019 Jun 22;1865(6):1265-1272. Epub 2019 Jan 22.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525113PMC
June 2019

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Hum Mutat 2016 May 18;37(5):427-38. Epub 2016 Mar 18.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, CH-8032, Switzerland.

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http://dx.doi.org/10.1002/humu.22970DOI Listing
May 2016

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Hum Mutat 2014 Dec;35(12):1449-58

Division for Metabolic Disorders and Children's Research Center, University Children's Hospital, Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.22633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441004PMC
December 2014

Characterization of functional domains of the cblD (MMADHC) gene product.

J Inherit Metab Dis 2014 Sep 11;37(5):841-9. Epub 2014 Apr 11.

Division for Metabolic Disorders and Children's Research Center, University Children's Hospital, Steinweisstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-014-9709-4DOI Listing
September 2014

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Mol Genet Metab 2012 Apr 31;105(4):602-6. Epub 2011 Dec 31.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100660
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http://dx.doi.org/10.1016/j.ymgme.2011.12.018DOI Listing
April 2012

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Hum Mol Genet 2012 Mar 8;21(6):1410-8. Epub 2011 Dec 8.

Division of Metabolism, Children’s Research Center (CRC), University Children’s Hospital, Zu¨ rich, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddr579DOI Listing
March 2012

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.

J Inherit Metab Dis 2011 Feb 6;34(1):121-6. Epub 2010 May 6.

Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.

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http://dx.doi.org/10.1007/s10545-010-9083-9DOI Listing
February 2011

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

J Inherit Metab Dis 2010 Feb 3;33(1):17-24. Epub 2010 Feb 3.

Department of General Pediatrics, Münster University Children's Hospital, Germany.

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http://dx.doi.org/10.1007/s10545-009-9032-7DOI Listing
February 2010

Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

J Biol Chem 2009 Oct 24;284(42):28953-7. Epub 2009 Aug 24.

Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.1074/jbc.M109.050674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781441PMC
October 2009

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.

Pediatrics 2007 Nov 1;120(5):e1335-40. Epub 2007 Oct 1.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1542/peds.2007-0674DOI Listing
November 2007

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Pediatr Res 2007 Aug;62(2):225-30

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1203/PDR.0b013e3180a0325fDOI Listing
August 2007

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Mol Genet Metab 2007 Mar 20;90(3):284-90. Epub 2006 Nov 20.

Division of Metabolism and Molecular Pediatrics, University Children's Hospital Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2006.10.002DOI Listing
March 2007

Prenatal and postnatal treatment in cobalamin C defect.

J Pediatr 2005 Oct;147(4):469-72

Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760500349
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http://dx.doi.org/10.1016/j.jpeds.2005.04.040DOI Listing
October 2005

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Hum Mutat 2005 Aug;26(2):164

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

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http://doi.wiley.com/10.1002/humu.9352
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http://dx.doi.org/10.1002/humu.9352DOI Listing
August 2005

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

Eur J Pediatr 2003 Dec 20;162 Suppl 1:S46-9. Epub 2003 Nov 20.

Department of Paediatrics, University Hospital Vienna, Währingergürtel 18-20, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s00431-003-1351-3DOI Listing
December 2003

5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

Clin Chem 2002 Jun;48(6 Pt 1):835-43

University Children's Hospital, CH-4005 Basel, Switzerland.

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June 2002

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Metab Brain Dis 2002 Mar;17(1):13-8

Centro de Estudio de las Metabolopatías Congénitas, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina.

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March 2002

Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.

Brain Res 2002 Jan;925(2):111-21

Metabolic Unit, University Children's Hospital, 4005 Basel, Switzerland.

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http://dx.doi.org/10.1016/s0006-8993(01)03182-1DOI Listing
January 2002