Nenad Blau


Ontology type: schema:Person     


Person Info

NAME

Nenad

SURNAME

Blau

Publications in SciGraph latest 50 shown

  • 2019-03 Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria in GENETICS IN MEDICINE
  • 2019-01 A proposed nosology of inborn errors of metabolism in GENETICS IN MEDICINE
  • 2018-12 Can untreated PKU patients escape from intellectual disability? A systematic review in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-05 Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-05 Think big — think omics in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-01 Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism in GENETICS IN MEDICINE
  • 2017-12 The complete European guidelines on phenylketonuria: diagnosis and treatment in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-12 Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-12 Tetrahydrobiopterin Deficiencies and Epilepsy in INHERITED METABOLIC EPILEPSIES
  • 2017-07 Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 2017-03 Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient in JOURNAL OF NEUROLOGY
  • 2016-12 CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model in SCIENTIFIC REPORTS
  • 2016-03 Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016-02 Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results in EUROPEAN JOURNAL OF PEDIATRICS
  • 2015-03 Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015 Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency in JIMD REPORTS, VOLUME 24
  • 2014 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism in PHYSICIAN'S GUIDE TO THE DIAGNOSIS, TREATMENT, AND FOLLOW-UP OF INHERITED METABOLIC DISEASES
  • 2014 Disorders of Folate Metabolism and Transport in PHYSICIAN'S GUIDE TO THE DIAGNOSIS, TREATMENT, AND FOLLOW-UP OF INHERITED METABOLIC DISEASES
  • 2014 Hyperoxalurias in PHYSICIAN'S GUIDE TO THE DIAGNOSIS, TREATMENT, AND FOLLOW-UP OF INHERITED METABOLIC DISEASES
  • 2014 Disorders of Glutathione and γ-Glutamyl Cycle in PHYSICIAN'S GUIDE TO THE DIAGNOSIS, TREATMENT, AND FOLLOW-UP OF INHERITED METABOLIC DISEASES
  • 2014 Tetrahydrobiopterin-(BH4-)Mangelkrankheiten in ANGEBORENE STOFFWECHSELKRANKHEITEN BEI ERWACHSENEN
  • 2013-12 Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-11 An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-07 SSIEM 2011 in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-12 Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers in PEDIATRIC NEPHROLOGY
  • 2011-12 Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly—questions in PEDIATRIC NEPHROLOGY
  • 2011-06 Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-06 Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-12 Advances and challenges in phenylketonuria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-12 Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-12 Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-09 Late diagnosis of primary hyperoxaluria after failed kidney transplantation in GERIATRIC NEPHROLOGY AND UROLOGY
  • 2009-12 Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-12 Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-02 Effect of BH4 supplementation on phenylalanine tolerance in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-02 Tetrahydrobiopterin in biomedical research in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-02 Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-07 Atypical presentation of distal renal tubular acidosis in two siblings in PEDIATRIC NEPHROLOGY
  • 2008-02 Defining tetrahydrobiopterin (BH4)-responsiveness in PKU in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008 Oxalate, Glycolate, Glycerate, Sulfate, and Citrate in LABORATORY GUIDE TO THE METHODS IN BIOCHEMICAL GENETICS
  • 2008 Pterins and Related Enzymes in LABORATORY GUIDE TO THE METHODS IN BIOCHEMICAL GENETICS
  • 2008 Folates in LABORATORY GUIDE TO THE METHODS IN BIOCHEMICAL GENETICS
  • 2007-07 Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery in BASIC RESEARCH IN CARDIOLOGY
  • 2006-12 Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism in PHYSICIAN’S GUIDE TO THE TREATMENT AND FOLLOW-UP OF METABOLIC DISEASES
  • 2005-06 Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria in EUROPEAN JOURNAL OF PEDIATRICS
  • 2004-09 Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia in NEUROGENETICS
  • 2004-02 Nephrolithiasis in a child with glucose-galactose malabsorption in PEDIATRIC NEPHROLOGY
  • 2003-03 Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-02 Tetrahydrobiopterin control in phenylketonuria in GENETICS IN MEDICINE
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
          {
            "affiliation": {
              "id": "https://www.grid.ac/institutes/grid.5253.1", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.413354.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.83440.3b", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7400.3", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.412341.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.440206.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7700.0", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.5252.0", 
            "type": "Organization"
          }
        ], 
        "familyName": "Blau", 
        "givenName": "Nenad", 
        "id": "sg:person.0625016530.03", 
        "identifier": {
          "name": "orcid_id", 
          "type": "PropertyValue", 
          "value": [
            "0000-0003-4347-3230"
          ]
        }, 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0625016530.03", 
          "https://orcid.org/0000-0003-4347-3230"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:39", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_405.json", 
        "type": "Person"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.0625016530.03'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0625016530.03'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0625016530.03'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0625016530.03'


     

    This table displays all metadata directly associated to this object as RDF triples.

    35 TRIPLES      11 PREDICATES      20 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.0625016530.03 schema:affiliation N6dc104d946694b74a614ec60271933e9
    2 https://www.grid.ac/institutes/grid.412341.1
    3 https://www.grid.ac/institutes/grid.413354.4
    4 https://www.grid.ac/institutes/grid.440206.4
    5 https://www.grid.ac/institutes/grid.5252.0
    6 https://www.grid.ac/institutes/grid.7400.3
    7 https://www.grid.ac/institutes/grid.7700.0
    8 https://www.grid.ac/institutes/grid.83440.3b
    9 schema:familyName Blau
    10 schema:givenName Nenad
    11 schema:identifier N3e100ca780fb424e9915192a4ee9a714
    12 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0625016530.03
    13 https://orcid.org/0000-0003-4347-3230
    14 schema:sdDatePublished 2019-03-07T14:39
    15 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    16 schema:sdPublisher N423d67c85a3241c8826b3b1178849113
    17 sgo:license sg:explorer/license/
    18 sgo:sdDataset persons
    19 rdf:type schema:Person
    20 N3e100ca780fb424e9915192a4ee9a714 schema:name orcid_id
    21 schema:value 0000-0003-4347-3230
    22 rdf:type schema:PropertyValue
    23 N423d67c85a3241c8826b3b1178849113 schema:name Springer Nature - SN SciGraph project
    24 rdf:type schema:Organization
    25 N6dc104d946694b74a614ec60271933e9 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
    26 sgo:isCurrent true
    27 rdf:type schema:OrganizationRole
    28 https://www.grid.ac/institutes/grid.412341.1 schema:Organization
    29 https://www.grid.ac/institutes/grid.413354.4 schema:Organization
    30 https://www.grid.ac/institutes/grid.440206.4 schema:Organization
    31 https://www.grid.ac/institutes/grid.5252.0 schema:Organization
    32 https://www.grid.ac/institutes/grid.5253.1 schema:Organization
    33 https://www.grid.ac/institutes/grid.7400.3 schema:Organization
    34 https://www.grid.ac/institutes/grid.7700.0 schema:Organization
    35 https://www.grid.ac/institutes/grid.83440.3b schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...