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Anne Romstad

Observed names: A Romstad, A. Romstad
OpenAlex ID: A5073158092
Biopterin responsive phenylalanine hydroxylase deficiency
2004 · Reuben Matalon, Richard Koch, et al. · Genetics in Medicine · 63
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Differentiation ofOesophagostomum bifurcumfromNecator americanusby PCR using genetic markers in spacer ribosomal DNA
1997 · A Romstad, R.B Gasser, et al. · Molecular and Cellular Probes · 63
Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study
1999 · Flemming Güttler, Colleen Azen, et al. · PEDIATRICS · 62
Necator americanus (Nematoda: Ancylostomatidae) from Africa and Malaysia have different ITS-2 rDNA sequences
1998 · A. Romstad, R.B. Gasser, et al. · International Journal for Parasitology · 62
Long-Term Beneficial Effects of the Phenylalanine-Restricted Diet in Late-Diagnosed Individuals with Phenylketonuria
1999 · Richard Koch, Kathryn Moseley, et al. · Molecular Genetics and Metabolism · 50
Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family
2003 · Anne Romstad, Erik Dupont, et al. · Archives of Neurology · 39
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early‐onset Parkinson's Disease
2006 · J. M. Hertz, K. Østergaard, et al. · European Journal of Neurology · 36
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Behavioural effects of phenylalanine‐free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria
2005 · H. Serap Kalkanoğlu, Kirsten K. Ahring, et al. · Acta Paediatrica · 34
Impact of the Phenylalanine Hydroxylase Gene on Maternal Phenylketonuria Outcome
2003 · Flemming Güttler, Colleen Azen, et al. · PEDIATRICS · 29
Treatable neurotransmitter deficiency in mild phenylketonuria
2001 · L. Bonafé, N. Blau, et al. · Neurology · 26
Levodopa‐responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
2005 · Katharina Diepold, Barbara Schütz, et al. · Movement Disorders · 23
Characterization of Oesophagostomum bifurcum and Necator americanus by PCR-RFLP of rDNA
1997 · A. Romstad, R. B. Gasser, et al. · Journal of Parasitology · 23
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
2000 · Anne Romstad, H. Serap Kalkanoğlu, et al. · Human Genetics · 21
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency
2005 · Lisbeth Birk Møller, Anne Romstad, et al. · Prenatal Diagnosis · 18
Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations
2003 · Mary Ann Richardson, Laura L Read, et al. · Biological Psychiatry · 18
A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics
2001 · Torben Gjetting, Anne Romstad, et al. · Molecular Genetics and Metabolism · 14
Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia
2002 · Lina Elzaouk, Hatam Osmani, et al. · Springer eBooks · 13
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency
2014 · Mahoko Furujo, Masako Kinoshita, et al. · Epilepsy & Behavior Case Reports · 10
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Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis
2001 · H. Serap Kalkanoğlu, Anne Romstad, et al. · Prenatal Diagnosis · 6
Single-Step Mutation Scanning of the 6-Pyruvoyltetrahydropterin Synthase Gene in Patients with Hyperphenylalaninemia
1999 · Anne Romstad, Per Guldberg, et al. · Clinical Chemistry · 5
[Molecular biology examinations of dopa-responsive dystonia].
1999 · A Romstad, F Güttler · PubMed
Works count: 22
Citation count: 613
H-index: 15
I10-index: 18
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