13 Einträge gefunden

1. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

   1. Muntau, Ania C
   2. Burlina, Alberto
   3. Eyskens, François
   4. Freisinger, Peter
   5. Leuzzi, Vincenzo
   6. Sivri, Hatice Serap
   7. Gramer, Gwendolyn

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. The Genetic Landscape and Epidemiology of Phenylketonuria

   1. Hillert, Alicia
   2. Anikster, Yair
   3. Belanger-Quintana, Amaya
   4. Burlina, Alberto
   5. Burton, Barbara K
   6. Carducci, Carla
   7. Chiesa, Ana E

   2020 - Forschungsinformationssystem des UKE
3. Key European guidelines for the diagnosis and management of patients with phenylketonuria

   1. van Spronsen, Francjan J
   2. van Wegberg, Annemiek Mj
   3. Ahring, Kirsten
   4. Bélanger-Quintana, Amaya
   5. Blau, Nenad
   6. Bosch, Annet M
   7. Burlina, Alberto

   2017 - Forschungsinformationssystem des UKE
4. Issues with European guidelines for phenylketonuria - Authors' reply

   1. van Spronsen, Francjan J
   2. van Wegberg, Annemiek M J
   3. Ahring, Kirsten
   4. Bélanger-Quintana, Amaya
   5. Blau, Nenad
   6. Bosch, Annet M
   7. Burlina, Alberto

   2017 - Forschungsinformationssystem des UKE
5. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

   1. Muntau, Ania C
   2. Burlina, Alberto
   3. Eyskens, François
   4. Freisinger, Peter
   5. De Laet, Corinne
   6. Leuzzi, Vincenzo
   7. Rutsch, Frank

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
6. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

   1. Maas, Roeltje R
   2. Iwanicka-Pronicka, Katarzyna
   3. Kalkan Ucar, Sema
   4. Alhaddad, Bader
   5. AlSayed, Moeenaldeen
   6. Al-Owain, Mohammed A
   7. Al-Zaidan, Hamad I

   2017 - Forschungsinformationssystem des UKE
7. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results

   1. Giżewska, Maria
   2. MacDonald, Anita
   3. Bélanger-Quintana, Amaya
   4. Burlina, Alberto
   5. Cleary, Maureen
   6. Coşkun, Turgay
   7. Feillet, François

   2016 - Forschungsinformationssystem des UKE
8. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

   1. Diez-Fernandez, Carmen
   2. Rüfenacht, Véronique
   3. Santra, Saikat
   4. Lund, Allan M
   5. Santer, René
   6. Lindner, Martin
   7. Tangeraas, Trine

   2016 - Forschungsinformationssystem des UKE
9. The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin

   1. Trefz, Friedrich K
   2. Muntau, Ania C
   3. Lagler, Florian B
   4. Moreau, Flavie
   5. Alm, Jan
   6. Burlina, Alberto
   7. Rutsch, Frank

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
10. Management of adult patients with phenylketonuria: survey results from 24 countries

    1. Trefz, Friedrich K
    2. van Spronsen, Francjan J
    3. MacDonald, Anita
    4. Feillet, François
    5. Muntau, Ania C
    6. Belanger-Quintana, Amaya
    7. Burlina, Alberto

    2015 - Forschungsinformationssystem des UKE
11. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

    1. Wortmann, Saskia B
    2. van Hasselt, Peter M
    3. Barić, Ivo
    4. Burlina, Alberto
    5. Darin, Niklas
    6. Hörster, Friederike
    7. Coker, Mahmut

    2015 - Forschungsinformationssystem des UKE
12. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study

    1. Keil, Stefanie
    2. Anjema, Karen
    3. van Spronsen, Francjan J
    4. Lambruschini, Nilo
    5. Burlina, Alberto
    6. Bélanger-Quintana, Amaya
    7. Couce, Maria L

    2013 - Forschungsinformationssystem des UKE
13. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes

    1. Cleary, Maureen
    2. Trefz, Friedrich
    3. Muntau, Ania C
    4. Feillet, François
    5. van Spronsen, Francjan J
    6. Burlina, Alberto
    7. Bélanger-Quintana, Amaya

    2013 - Forschungsinformationssystem des UKE