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Jytte Bieber Nielsen

Observed names: J B Nielsen, J. B. NIELSEN, J. B. Nielsen, J.B. Nielsen, Jytte B Nielsen, Jytte B. Nielsen, Jytte Nielsen
OpenAlex ID: A5102336218
Striatal Dysfunction in Attention Deficit and Hyperkinetic Disorder
1989 · H. C. Lou, L. Henriksen, et al. · Archives of Neurology · 546
Early onset seizures and Rett-like features associated with mutations in CDKL5
2005 · Julie C Evans, Hayley L Archer, et al. · European Journal of Human Genetics · 177
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases
2004 · Merete Bugge, Celia deLozier‐Blanchet, et al. · American Journal of Medical Genetics Part A · 79
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine
1988 · C. Lykkelund, J. B. Nielsen, et al. · European Journal of Pediatrics · 75
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
2001 · Jytte Bieber Nielsen, Karen Friis Henriksen, et al. · European Journal of Human Genetics · 70
Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU)
2006 · A. M. Hvas, E. Nexo, et al. · Journal of Inherited Metabolic Disease · 66
Large genomic rearrangements in MECP2
2005 · Kirstine Ravn, Jytte Bieber Nielsen, et al. · Human Mutation · 61
Immature Pattern of Brain Activity in Rett Syndrome
1990 · J. B. Nielsen, L. Friberg, et al. · Archives of Neurology · 45
DXA measurements in rett syndrome reveal small bones with low bone mass
2011 · Gitte Roende, Kirstine Ravn, et al. · Journal of Bone and Mineral Research · 38
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Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases
2012 · Giorgio Pini, Stefania Bigoni, et al. · Neuropediatrics · 32
Patients With Rett Syndrome Sustain Low-Energy Fractures
2010 · Gitte Roende, Kirstine Ravn, et al. · Pediatric Research · 32
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany
2007 · Lisbeth Birk Møller, Anders O.H. Nygren, et al. · Human Mutation · 28
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Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome
2005 · K Ravn, J B Nielsen, et al. · Clinical Genetics · 27
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
2010 · Jytte Bieber Nielsen, Karin E. Nielsen, et al. · Journal of Inherited Metabolic Disease · 23
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
2011 · Kirstine Ravn, Gitte Roende, et al. · Orphanet Journal of Rare Diseases · 21
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Biochemical and clinical effects of tyrosine and tryptophan in the rett syndrome
1990 · Jytte B Nielsen, Hans C Lou, et al. · Brain and Development · 21
Cerebral magnetic resonance spectroscopy in Rett syndrome
1993 · Jytte Bieber Nielsen, Peter Bjerre Toft, et al. · Brain and Development · 19
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2
2001 · Jytte Bieber Nielsen, Kirstine Ravn, et al. · Brain and Development · 18
Cognitive development in offspring of untreated and preconceptionally treated maternal phenylketonuria
1990 · F. Güttler, H. Lou, et al. · Journal of Inherited Metabolic Disease · 18
Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis
2013 · Gitte Roende, Janne Petersen, et al. · Pediatric Research · 13
A comparison of the effects of sodium selenite and seleno-L-methionine on disposition of orally administered mercuric chloride.
1991 · J B Nielsen, O Andersen · PubMed · 13
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark
2015 · A. Bayat, S. Yasmeen, et al. · Clinical Genetics · 12
Low CSF HVA levels in the Rett syndrome: a reflection of restricted synapse formation?
1992 · J B Nielsen, A Bertelsen, et al. · PubMed · 12
Plasma Amino Acids in Phenylketonuric Children Treated Either with Phenylalanine‐free Amino Acids or a Protein Hydrolysate
1990 · A. ‐M. GERDES, J. B. NIELSEN, et al. · Acta Paediatrica · 8
Evaluation and comparison of commercially available pregnancy tests based on monoclonal antibodies to human choriogonadotropin.
1986 · R Gelletlie, J B Nielsen · Clinical Chemistry · 7
Works count: 35
Citation count: 1,478
H-index: 18
I10-index: 23
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