Flemming Güttler


Ontology type: schema:Person     


Person Info

NAME

Flemming

SURNAME

Güttler

Publications in SciGraph latest 50 shown

  • 2009 Phenylalanine Hydroxylase Deficiency in ENCYCLOPEDIA OF MOLECULAR MECHANISMS OF DISEASE
  • 2004-02 Biopterin responsive phenylalanine hydroxylase deficiency in GENETICS IN MEDICINE
  • 2001-05 Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study in PEDIATRIC RESEARCH
  • 2001-04 Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia in PEDIATRIC RESEARCH
  • 2000-12 Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE) in HUMAN GENETICS
  • 1997-09 Intellectual, Neurologic, and Neuropsychologic Outcome in Untreated Subjects with Nonphenylketonuria Hyperphenylalaninemia in PEDIATRIC RESEARCH
  • 1996-06 Phenotyping of phenylketonuric patients by oral phenylalanine loading in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-01 The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1995-07 In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations in EUROPEAN JOURNAL OF PEDIATRICS
  • 1993-09 The phenylketonuria G272X haplotype 7 mutation in European populations in HUMAN GENETICS
  • 1991-05 Molecular characterization of PKU allele prevalent in southern Europe and Ireland in SOMATIC CELL AND MOLECULAR GENETICS
  • 1991-03 A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia in EUROPEAN JOURNAL OF PEDIATRICS
  • 1991-01 The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria in HUMAN GENETICS
  • 1990 Cognitive Development in Offspring of Untreated and Preconceptionally Treated Maternal Phenylketonuria in CARBOHYDRATE AND GLYCOPROTEIN METABOLISM; MATERNAL PHENYLKETONURIA
  • 1989 Molecular Genetics of PKU and Implications for New Diagnostic and Therapeutic Techniques in GENETICS OF NEUROPSYCHIATRIC DISEASES
  • 1988-12 Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988-11 Variability in clinical expression of Menkes syndrome in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988 Epidemiology and Natural History of Phenylketonuria and Other Hyperphenylalaninemias in DIETARY PHENYLALANINE AND BRAIN FUNCTION
  • 1987-05 Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria in HUMAN GENETICS
  • 1987-01 Molecular biology of phenylketonuria in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986-12 Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986-08 Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria in NATURE
  • 1986 Dietary Problems of Phenylketonuria: Effect on CNS Transmitters and their Possible Role in Behaviour and Neuropsychological Function in PRACTICAL DEVELOPMENTS IN INHERITED METABOLIC DISEASE: DNA ANALYSIS, PHENYLKETONURIA AND SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA
  • 1986 Molecular Genetics of PKU in PRACTICAL DEVELOPMENTS IN INHERITED METABOLIC DISEASE: DNA ANALYSIS, PHENYLKETONURIA AND SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA
  • 1985-10 Carrier detection and prenatal diagnosis of PKU by phenyalanine hydroxylase locus specific DNA polymorphism in PEDIATRIC RESEARCH
  • 1985-05 Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents in EUROPEAN JOURNAL OF PEDIATRICS
  • 1985 Biopterin, Neopterin and Tyrosine Responses to Combined Oral Phenylalanine and Tetrahydrobiopterin Loading Tests in Two Normal Children and in a Girl with Partial Biopterin Deficiency in INHERITED DISORDERS OF VITAMINS AND COFACTORS
  • 1984-06 Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis in EUROPEAN JOURNAL OF PEDIATRICS
  • 1984 The Possibility for Prenatal Diagnosis of PKU by Linkage Analyses based on Phenylalanine Hydroxylase Locus Specific DNA-Polymorphisms in ORGANIC ACIDURIAS
  • 1983-11 Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria in NATURE
  • 1983-10 Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome in HUMAN GENETICS
  • 1982-06 Diagnosis of Hunter's syndrome carriers; Radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate in HUMAN GENETICS
  • 1979 Discussion in INBORN ERRORS OF IMMUNITY AND PHAGOCYTOSIS
  • 1979 Round Table Discussion in INBORN ERRORS OF IMMUNITY AND PHAGOCYTOSIS
  • 1973-12 On the possible localization of a gene for triosephosphate isomerase on the short arm of human chromosome 5 in HUMANGENETIK
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