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Lucja Kierat

Research Profile

Chemicals & Drugs

Disorders

Living Beings

Procedures

Physiology

Pregnancy

Anatomy

Amniotic Fluid

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Publications

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Marcel R Zurflüh; Marcello Giovannini; Laura Fiori; Betina Fiege; Yasemin Gokdemir; Tolunay Baykal; Lucja Kierat; Konrad H Gärtner; Beat Thöny; Nenad Blau
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Thomas Opladen; Marcel R Zurflüh; Ilse Kern; Lucja Kierat; Beat Thöny; Nenad Blau
Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.
Betina Fiege; Diana Ballhausen; Lucja Kierat; Walter Leimbacher; Dimitri Goriounov; Bernhard Schircks; Beat Thöny; Nenad Blau
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

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All Publications

2005: Marcel R Zurflüh; Marcello Giovannini; Laura Fiori; Betina Fiege; Yasemin Gokdemir; Tolunay Baykal; Lucja Kierat; Konrad H Gärtner; Beat Thöny; Nenad Blau
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Molecular genetics and metabolism 2005;86 Suppl 1():S96-103.
2005: Thomas Opladen; Marcel R Zurflüh; Ilse Kern; Lucja Kierat; Beat Thöny; Nenad Blau
Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.
European journal of pediatrics 2005;164(6):395-6.
2004: Betina Fiege; Diana Ballhausen; Lucja Kierat; Walter Leimbacher; Dimitri Goriounov; Bernhard Schircks; Beat Thöny; Nenad Blau
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Molecular genetics and metabolism 2004;81(1):45-51.
2003: Nenad Blau; Luisa Bonafé; I Krägeloh-Mann; Beat Thöny; Lucja Kierat; M Häusler; Vincent T Ramaekers
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
Neurology 2003;61(5):642-7.
2001: Luisa Bonafé; Beat Thöny; Walter Leimbacher; Lucja Kierat; Nenad Blau
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Clinical chemistry 2001;47(3):477-85.
1998: Beat Thöny; Frank Neuheiser; Lucja Kierat; M O Rolland; P Guibaud; T Schlüter; R Germann; R A Heidenreich; M Duran; J B de Klerk; June E Ayling; Nenad Blau
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
Human genetics 1998;103(2):162-7.
1998: Beat Thöny; Frank Neuheiser; Lucja Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; June E Ayling; Nenad Blau
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
American journal of human genetics 1998;62(6):1302-11.
1996: Nenad Blau; J B de Klerk; Beat Thöny; Claus W Heizmann; Lucja Kierat; Jan A M Smeitink; M Duran
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
Biochemical and molecular medicine 1996;58(2):199-203.
1994: Nenad Blau; Lucja Kierat; A Matasovic; Walter Leimbacher; Claus W Heizmann; O Guardamagna; Alberto Ponzone
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
Clinica chimica acta; international journal of clinical chemistry 1994;226(2):159-69.
1993: Alberto Ponzone; O Guardamagna; Marco Spada; Silvio Ferraris; Riccardo Ponzone; Lucja Kierat; Nenad Blau
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
European journal of pediatrics 1993;152(8):655-61.
1993: Alberto Ponzone; O Guardamagna; Marco Spada; Riccardo Ponzone; M Sartore; Lucja Kierat; Claus W Heizmann; Nenad Blau
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
Clinica chimica acta; international journal of clinical chemistry 1993;216(1-2):63-71.
1992: Nenad Blau; Lucja Kierat; H C Curtius; M Blaskovics; T Giudici
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.
Journal of inherited metabolic disease 1992;15(3):409-12.
1992: Nenad Blau; Lucja Kierat; Claus W Heizmann; W Endres; T Giudici; M Wang
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.
Journal of inherited metabolic disease 1992;15(3):402-4.
1989: Nenad Blau; A C Curtius; Lucja Kierat; D Leupold; E Kohne
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
The Journal of pediatrics 1989;115(4):661-3.
1989: Nenad Blau; A Niederwieser; H C Curtius; Lucja Kierat; Walter Leimbacher; A Matasovic; Franz Binkert; H Lehmann; D Leupold; O Guardamagna
Prenatal diagnosis of atypical phenylketonuria.
Journal of inherited metabolic disease 1989;12 Suppl 2():295-8.
1987: W Endres; H Ibel; Lucja Kierat; Nenad Blau; H C Curtius
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Lancet 1987;2(8552):223.
1986: E Boltshauser; A Niederwieser; Lucja Kierat; C A Haenggeli
Pterins in patients with Rett syndrome.
American journal of medical genetics. Supplement 1986;1():317-21.