Biopterin responsive phenylalanine hydroxylase deficiency

Reuben Matalon, Richard Koch, Kimberlee Michals‐Matalon, +9

Genetics in Medicine

Necator americanus (Nematoda: Ancylostomatidae) from Africa and Malaysia have different ITS-2 rDNA sequences

Anne Romstad, Robin B. Gasser, P. Nansen, +2

International Journal for Parasitology

BiologyPhylogeneticsNatural SciencesEvolutionary BiologyZoological Taxonomy +2

Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study

Flemming Güttler, Colleen Azen, Per Guldberg, +8

PEDIATRICS

Differentiation ofOesophagostomum bifurcumfromNecator americanusby PCR using genetic markers in spacer ribosomal DNA

Anne Romstad, Robin B. Gasser, JR Monti, +4

Molecular and Cellular Probes

BiologyDna SequencingPhylogeneticsMolecular EcologyNatural Sciences +10

Long-Term Beneficial Effects of the Phenylalanine-Restricted Diet in Late-Diagnosed Individuals with Phenylketonuria

Richard Koch, Kathryn Moseley, Jiaping Ning, +3

Molecular Genetics and Metabolism

NutritionUrologyLate-diagnosed IndividualsMedicineClinical Nutrition +8

Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family

Anne Romstad, E. Dupont, B Krag-Olsen, +3

Archives of Neurology

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

Jens Michael Hertz, Karen Østergaard, Inger Juncker, +5

European Journal of Neurology

GeneticsPathologyDisease Gene IdentificationPark2 MutationDanish Population +16

Behavioural effects of phenylalanine‐free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

H. Serap Kalkanoğlu, Kirsten Ahring, Durdu Sertkaya, +6

Acta Paediatrica

Impact of the Phenylalanine Hydroxylase Gene on Maternal Phenylketonuria Outcome

Flemming Güttler, Colleen Azen, Per Guldberg, +8

PEDIATRICS

Treatable neurotransmitter deficiency in mild phenylketonuria

Luisa Bonafé, Nenad Blau, Alessandro P. Burlina, +3

Neurology

UrologyMendelian DisorderBiochemistryNeurological DisorderGenetic Disorder +13