Publications by authors named "Nenad Blau"

100Publications

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.

Mol Genet Metab 2020 05 21;130(1):1-6. Epub 2020 Feb 21.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.007DOI Listing
May 2020

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.

J Inherit Metab Dis 2020 Jul 23;43(4):712-725. Epub 2020 Jan 23.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12213DOI Listing
July 2020

The first European guidelines on phenylketonuria: Usefulness and implications for BH responsiveness testing.

J Inherit Metab Dis 2020 03 20;43(2):244-250. Epub 2019 Nov 20.

Beatrix Children's Hospital, Division of Metabolic Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12173DOI Listing
March 2020

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Mol Genet Metab 2019 06 12;127(2):117-121. Epub 2019 Apr 12.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.04.002DOI Listing
June 2019

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Mol Genet Metab 2019 05 27;127(1):12-22. Epub 2019 Mar 27.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.03.009DOI Listing
May 2019

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Mol Genet Metab 2019 05 26;127(1):28-30. Epub 2019 Mar 26.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183073
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http://dx.doi.org/10.1016/j.ymgme.2019.03.007DOI Listing
May 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers.

Mol Genet Metab 2019 04 10;126(4):406-412. Epub 2019 Feb 10.

Dietmar-Hopp-Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, University Children's Hospital, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.001DOI Listing
April 2019

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.

J Inherit Metab Dis 2019 05 1;42(3):398-406. Epub 2019 Feb 1.

Department of Pediatrics, Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/jimd.12049
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http://dx.doi.org/10.1002/jimd.12049DOI Listing
May 2019

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.

Hum Mutat 2019 04 6;40(4):483-494. Epub 2019 Feb 6.

Department of Biomedicine, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/humu.23712DOI Listing
April 2019

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

Front Neurol 2018 3;9:1016. Epub 2018 Dec 3.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.

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http://dx.doi.org/10.3389/fneur.2018.01016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286965PMC
December 2018

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 04 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
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http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Mol Genet Metab 2018 09 23;125(1-2):86-95. Epub 2018 Jun 23.

Center for Child and Adolescent Medicine, and Dietmar-Hopp Metabolic Center, University of Heidelberg, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.011DOI Listing
September 2018

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Genet Med 2019 03 12;21(3):580-590. Epub 2018 Jul 12.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://www.nature.com/articles/s41436-018-0081-x
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http://dx.doi.org/10.1038/s41436-018-0081-xDOI Listing
March 2019

A proposed nosology of inborn errors of metabolism.

Genet Med 2019 01 8;21(1):102-106. Epub 2018 Jun 8.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/s41436-018-0022-8
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http://dx.doi.org/10.1038/s41436-018-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709PMC
January 2019

Think big - think omics.

J Inherit Metab Dis 2018 05;41(3):281-283

Dietmar-Hopp Metabolic Center, Department of General Pediatrics, University Hospital, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-018-0165-4
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http://dx.doi.org/10.1007/s10545-018-0165-4DOI Listing
May 2018

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Clin Chim Acta 2018 Jun 28;481:132-138. Epub 2018 Feb 28.

Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183010
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http://dx.doi.org/10.1016/j.cca.2018.02.035DOI Listing
June 2018

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

J Inherit Metab Dis 2018 05 16;41(3):555-562. Epub 2018 Jan 16.

Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.

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http://dx.doi.org/10.1007/s10545-017-0125-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959948PMC
May 2018

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Mol Genet Metab 2018 01 20;123(1):1-5. Epub 2017 Nov 20.

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

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http://dx.doi.org/10.1016/j.ymgme.2017.11.005DOI Listing
January 2018

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genet Med 2018 01 20;20(1):151-158. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/gim.2017.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763153PMC
January 2018

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.

Eur J Pediatr 2017 Jul 24;176(7):917-924. Epub 2017 May 24.

Department of Pediatrics, Child Neurology and Psychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-017-2932-xDOI Listing
July 2017

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

Stem Cell Res 2017 04 24;20:38-41. Epub 2017 Feb 24.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.scr.2017.02.010DOI Listing
April 2017

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

J Neurol 2017 Mar 4;264(3):578-582. Epub 2017 Jan 4.

Department of Neurology, Friedrich-Baur-Institute, University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-016-8387-6DOI Listing
March 2017

Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

Stem Cell Res 2016 11 26;17(3):580-583. Epub 2016 Oct 26.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S18735061163016
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http://dx.doi.org/10.1016/j.scr.2016.10.008DOI Listing
November 2016

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.

Sci Rep 2016 10 27;6:35794. Epub 2016 Oct 27.

Dietmar-Hopp-Metabolic Center, Department of General Pediatrics, University Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/srep35794
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http://dx.doi.org/10.1038/srep35794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081532PMC
October 2016

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Gene 2016 Dec 13;594(1):138-143. Epub 2016 Sep 13.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2016.09.015DOI Listing
December 2016

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.

Eur J Paediatr Neurol 2016 Sep 13;20(5):709-13. Epub 2016 Jun 13.

Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.05.021DOI Listing
September 2016

Genetics of Phenylketonuria: Then and Now.

Authors:
Nenad Blau

Hum Mutat 2016 06 18;37(6):508-15. Epub 2016 Mar 18.

Dietmar-Hopp-Metabolic Center, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.22980DOI Listing
June 2016

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Mol Genet Metab 2016 Mar 12;117(3):328-35. Epub 2016 Jan 12.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.004DOI Listing
March 2016

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

JIMD Rep 2015 26;24:109-13. Epub 2015 May 26.

Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/8904_2015_450
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http://dx.doi.org/10.1007/8904_2015_450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582026PMC
September 2015

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

Mol Genet Metab 2015 Apr 7;114(4):564-9. Epub 2015 Feb 7.

Merck Institute for Pharmacometrics, Merck Serono S.A., EPFL Innovation Park - Building I, CH-1015 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.013DOI Listing
April 2015

Alternative therapies to address the unmet medical needs of patients with phenylketonuria.

Expert Opin Pharmacother 2015 Apr 7;16(6):791-800. Epub 2015 Feb 7.

University Children's Hospital, Division of Inborn Metabolic Diseases , Im Neuenheimer Feld 669, Heidelberg 69120 , Germany

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http://dx.doi.org/10.1517/14656566.2015.1013030DOI Listing
April 2015

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Gene 2015 Apr 14;559(2):144-8. Epub 2015 Jan 14.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.01.026DOI Listing
April 2015

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Eur J Hum Genet 2015 Mar 18;23(3):302-9. Epub 2014 Jun 18.

1] Division of Metabolism, University Children's Hospital, Zürich, Switzerland [2] Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/ejhg2014114
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http://dx.doi.org/10.1038/ejhg.2014.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326710PMC
March 2015

Molecular genetics and diagnosis of phenylketonuria: state of the art.

Expert Rev Mol Diagn 2014 Jul 31;14(6):655-71. Epub 2014 May 31.

Division of Inborn Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2014.92
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http://dx.doi.org/10.1586/14737159.2014.923760DOI Listing
July 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.

Authors:
Nenad Blau

Expert Opin Drug Metab Toxicol 2013 Sep 27;9(9):1207-18. Epub 2013 May 27.

University Children's Hospital, Division of Inborn Metabolic Diseases, Department of General Pediatrics, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1517/17425255.2013.804064DOI Listing
September 2013

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

Hum Mutat 2013 Jul 1;34(7):927-36. Epub 2013 May 1.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.22320DOI Listing
July 2013

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Mol Genet Metab 2013 Mar 12;108(3):195-7. Epub 2013 Jan 12.

Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.001DOI Listing
March 2013

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

J Child Neurol 2013 Nov 10;28(11):1496-1499. Epub 2012 Sep 10.

1Pediatric Neurology Department, School of Medicine, Pereira Rossell Children's Hospital, Montevideo, Uruguay.

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http://dx.doi.org/10.1177/0883073812457591DOI Listing
November 2013

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

J Inherit Metab Dis 2012 Nov 23;35(6):963-73. Epub 2012 Jun 23.

Division of Inborn Metabolic Diseases, University Childrens Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-012-9506-xDOI Listing
November 2012

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Mol Genet Metab 2012 Aug 29;106(4):403-11. Epub 2012 May 29.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.013DOI Listing
August 2012

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Mol Genet Metab 2012 Apr 12;105(4):559-65. Epub 2012 Jan 12.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.025DOI Listing
April 2012

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.

Mol Genet Metab 2011 20;104 Suppl:S80-5. Epub 2011 Sep 20.

Post-Graduation Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.019DOI Listing
March 2012

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

J Child Neurol 2012 Apr 22;27(4):523-5. Epub 2011 Sep 22.

Department of Experimental Medicine, Sapienza Università di Roma, Rome, Italy.

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http://dx.doi.org/10.1177/0883073811420717DOI Listing
April 2012

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Mol Genet Metab 2011 26;104 Suppl:S2-9. Epub 2011 Aug 26.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.017DOI Listing
March 2012

Tetrahydrobiopterin: biochemistry and pathophysiology.

Biochem J 2011 Sep;438(3):397-414

Division of Biological Chemistry, Biocenter, Innsbruck Medical University, Innsbruck A-6020, Austria.

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http://dx.doi.org/10.1042/BJ20110293DOI Listing
September 2011

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

Mol Genet Metab 2011 Nov 2;104(3):362-8. Epub 2011 Jun 2.

Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.019DOI Listing
November 2011

Cerebral folate deficiency: a neurometabolic syndrome?

Mol Genet Metab 2011 Nov 14;104(3):369-72. Epub 2011 Jun 14.

Department of Pediatrics, University Hospital RWTH Aachen, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.004DOI Listing
November 2011

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.

Hum Mol Genet 2011 Jul 28;20(13):2628-41. Epub 2011 Apr 28.

Department of Molecular Pediatrics, Dr von Hauner Children’s Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1093/hmg/ddr165DOI Listing
July 2011

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.

J Inherit Metab Dis 2011 Jun 17;34(3):819-26. Epub 2011 Mar 17.

Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-011-9300-1DOI Listing
June 2011

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly.

Pediatr Nephrol 2011 Dec 1;26(12):2153-7. Epub 2011 Mar 1.

Department of Pediatric Nephrology, University Children's Hospital, Medical School Skopje, 17 Vodnjanska, 1000, Skopje, Macedonia.

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http://www.biopku.org/pdf/tasic_2011_pn.pdf
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http://link.springer.com/content/pdf/10.1007%2Fs00467-011-17
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http://link.springer.com/10.1007/s00467-011-1786-0
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http://dx.doi.org/10.1007/s00467-011-1786-0DOI Listing
December 2011

Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.

Mol Genet Metab 2011 Mar 29;102(3):368-73. Epub 2010 Nov 29.

Division of Chemistry and Biochemistry, Department of Pediatrics, University of Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.162DOI Listing
March 2011

Advances and challenges in phenylketonuria.

J Inherit Metab Dis 2010 Dec;33(6):645-8

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http://dx.doi.org/10.1007/s10545-010-9247-7DOI Listing
December 2010

Phenylketonuria.

Lancet 2010 Oct;376(9750):1417-27

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684820/pdf/ajhg
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http://linkinghub.elsevier.com/retrieve/pii/S014067361060961
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http://dx.doi.org/10.1016/S0140-6736(10)60961-0DOI Listing
October 2010

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

J Inherit Metab Dis 2010 Dec 29;33(6):697-703. Epub 2010 Jul 29.

Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-010-9164-9DOI Listing
December 2010

Challenges and pitfalls in the management of phenylketonuria.

Pediatrics 2010 Aug 12;126(2):333-41. Epub 2010 Jul 12.

Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme, INSERM U 954, CHU Brabois Enfants, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1542/peds.2009-3584DOI Listing
August 2010

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport.

Mol Genet Metab 2010 Sep 16;101(1):48-54. Epub 2010 Jun 16.

University Children's Hospital Heidelberg, Division of Inborn Metabolic Diseases, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.006DOI Listing
September 2010

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency.

Authors:
Nenad Blau

Expert Rev Endocrinol Metab 2010 Jul;5(4):483-494

a Zürich Center for Integrative Human Physiology (ZIHP), Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://www.tandfonline.com/doi/full/10.1586/eem.10.39
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http://dx.doi.org/10.1586/eem.10.39DOI Listing
July 2010

Late diagnosis of primary hyperoxaluria after failed kidney transplantation.

Int Urol Nephrol 2010 Sep 18;42(3):825-9. Epub 2009 Dec 18.

University Department of Nephrology, Medical Faculty, University of Skopje, Vodnjanska 17, 1000 Skopje, Macedonia.

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September 2010

Management of phenylketonuria in Europe: survey results from 19 countries.

Mol Genet Metab 2010 Feb 13;99(2):109-15. Epub 2009 Sep 13.

University Children's Hospital, Zürich, Switzerland.

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February 2010

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

Mol Genet Metab 2010 Jan;99(1):58-61

Department of Pediatric Neurology, Ostschweizer Kinderspital, Claudiusstrasse 6, CH 9006 St. Gallen, Switzerland.

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January 2010

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Hum Mutat 2009 May;30(5):823-31

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.

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May 2009

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Mol Genet Metab 2009 Apr 8;96(4):158-63. Epub 2009 Feb 8.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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April 2009

Tetrahydrobiopterin in biomedical research.

J Inherit Metab Dis 2009 Feb;32(1):1-2

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February 2009

Two Greek siblings with sepiapterin reductase deficiency.

Mol Genet Metab 2008 Aug 27;94(4):403-9. Epub 2008 May 27.

Department of Neurology, Laboratory of Pediatrics and Neurology, 830 LKN, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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August 2008

Mutations in human monoamine-related neurotransmitter pathway genes.

Hum Mutat 2008 Jul;29(7):891-902

Department of Biomedicine, University of Bergen, Norway.

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July 2008

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.

J Neurochem 2008 Jul 14;106(2):672-81. Epub 2008 Apr 14.

Department of Pediatrics, University of Zürich, Zürich, Switzerland.

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July 2008

Atypical presentation of distal renal tubular acidosis in two siblings.

Pediatr Nephrol 2008 Jul 2;23(7):1177-81. Epub 2008 Apr 2.

Department of Pediatric Nephrology, Children's Hospital, 17 Vodnjanska, Skopje, Macedonia.

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July 2008

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome.

Dev Med Child Neurol 2008 May 19;50(5):346-52. Epub 2008 Mar 19.

Department of Paediatric Neurology, Centre Hospitalier Universitaire, Liège, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2715943PMC
May 2008

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

Authors:
Nenad Blau

J Inherit Metab Dis 2008 Feb;31(1):2-3

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February 2008