F. Güttler

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index1.6kcitations86works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(51), Folate and B Vitamins Research(21), Metabolomics and Mass Spectrometry Studies(11), Diet and metabolism studies(10), Mitochondrial Function and Pathology(8)

Publications86 total

Mucopolysaccharidoses
2011· 2 cited
Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine
Journal of Inherited Metabolic Disease·2007· 101 cited
Low frequency of <i>Parkin</i>, <i>Tyrosine Hydroxylase</i>, and <i>GTP Cyclohydrolase I</i> gene mutations in a Danish population of early‐onset Parkinson's Disease
European Journal of Neurology·2006· 37 cited
Danger of high‐protein dietary supplements to persons with hyperphenylalaninaemia
Journal of Inherited Metabolic Disease·2003· 3 cited
Maternal Phenylketonuria: An International Study
Molecular Genetics and Metabolism·2000· 65 cited
Brain phenylalanine concentration in the management of adults with phenylketonuria
Journal of Inherited Metabolic Disease·2000· 62 cited
[Molecular biology examinations of dopa-responsive dystonia].
PubMed·1999
[Screening for hemoglobinopathy].
PubMed·1999
[A center for hemoglobin diseases in the county of Copenhagen].
PubMed·1999
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes
Journal of Inherited Metabolic Disease·1998· 18 cited
Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India
Journal of Inherited Metabolic Disease·1997· 10 citedOpen Access
Intellectual, Neurologic, and Neuropsychologic Outcome in Untreated Subjects with Nonphenylketonuria Hyperphenylalaninemia
Pediatric Research·1997· 34 citedOpen Access
[Hemoglobinopathy in the county of Copenhagen].
PubMed·1997· 12 cited
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
PubMed·1996· 84 citedOpen Access
Phenotyping of phenylketonuric patients by oral phenylalanine loading
European Journal of Pediatrics·1996· 4 cited
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Journal of Medical Genetics·1996· 7 citedOpen Access
The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
European Journal of Pediatrics·1996· 56 cited
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
Journal of Medical Genetics·1995· 62 citedOpen Access
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population
Journal of Inherited Metabolic Disease·1995· 22 cited
The international collaborative study of maternal phenylketonuria: status report 1994
Acta Paediatrica·1994· 61 cited
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Frequent Co-authors

Per Guldberg(20), K. Henriksen(7), H. Lou(7), Harvey L. Levy(5), Richard Koch(5), Reuben Matalon(4), Jente Andresen(4), I. Mikkelsen(4), B. R. Olsen(4), T. Tønnesen(4), Bobbye Rouse(3), Felix de la Cruz(3), Anne‐Marie Gerdes(3), P N Jørgensen(3), Jytte Bieber Nielsen(3), Marcello Giovannini(2), Randy C. Eisensmith(2), Y Okano(2), M. Dasovich(2), WB Hanley(2)