Zobrazeno 1 - 10
of 74
pro vyhledávání: '"F. K. Trefz"'
Autor:
Amaya Belanger-Quintana, Turgay Coşkun, Shauna Kearney, F. K. Trefz, Júlio César Rocha, Ania C. Muntau, Jaime Campistol, Mirjam Langeveld, Maria Gizewska, François Maillot, Cristina Romani, K. Ahring, Alessandro P. Burlina, Vincenzo Leuzzi, Skadi Beblo, François Feillet, Stephan C. J. Huijbregts, Roeland A F Evers, Anita MacDonald, Annet M. Bosch, F. J. van Spronsen, A.M.J. van Wegberg
Publikováno v:
Molecular genetics and metabolism, 132(4), 215-219. Academic Press Inc.
MOLECULAR GENETICS AND METABOLISM
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Molecular Genetics and Metabolism, 132(4), 215-219. ACADEMIC PRESS INC ELSEVIER SCIENCE
MOLECULAR GENETICS AND METABOLISM
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Molecular Genetics and Metabolism, 132(4), 215-219. ACADEMIC PRESS INC ELSEVIER SCIENCE
Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definiti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6861ebadf72d9b32a68bd46b172e2727
https://hdl.handle.net/1887/3264296
https://hdl.handle.net/1887/3264296
Autor:
F. K. Trefz, D. van Vliet, D. Abeln, E. Lange, T. S. Hagedorn, F. J. van Spronsen, A.M.J. van Wegberg, Anita MacDonald
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet journal of rare diseases, 16(1):2. BMC
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 16(1):2. BMC
Orphanet Journal of Rare Diseases
Background In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s. Methods To identify expect
Autor:
Maja Djordjevic, Francjan J. van Spronsen, K. Ahring, Annemiek M. J. van Wegberg, Per Mathisen, Kari Casas, Francesca Nardecchia, Vincenzo Leuzzi, F. K. Trefz, Callum Wilson, William B. Hanley, Frank Rutsch, Kimberly K. Powell, Miroslaw Bik-Multanowski, Bozena Didycz, Clara D.M. van Karnebeek, Jozef Hertecant, Natalia Usurelu, Danique van Vliet, Maja Stojiljkovic
Publikováno v:
Nutrients
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57cc83d4e621e4a121acbacf67f50c2
http://hdl.handle.net/11573/1349390
http://hdl.handle.net/11573/1349390
Autor:
M. Robert, Amaya Belanger-Quintana, Rachel Skeath, Nenad Blau, K. Strączek, Sharon Evans, M.F. Almeida, F. K. Trefz, Saikat Santra, F. J. van Spronsen, Alexandra Puchwein-Schwepcke, Maureen Cleary, Katharina Dokoupil, Maria Gizewska, Amelie S. Lotz-Havla, Anita MacDonald, Alessandro P. Burlina, E. Kamieńska, Júlio César Rocha, A.M. Lammardo, H. Gokmen Ozel, Suresh Vijay, K. Ahring, E. van Dam, François Maillot, T. Coskum, Ania C. Muntau, François Feillet, M. van Rijn
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2015, 116 (4), pp.242-251. ⟨10.1016/j.ymgme.2015.10.001⟩
Molecular Genetics and Metabolism, 116(4), 242-251. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, Elsevier, 2015, 116 (4), pp.242-251. ⟨10.1016/j.ymgme.2015.10.001⟩
Molecular Genetics and Metabolism, 116(4), 242-251. ACADEMIC PRESS INC ELSEVIER SCIENCE
Introduction: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent con
Autor:
Radha Ramachandran, Katrin Õunap, Maja Stojiljkovic, Neslihan Önenli Mungan, Callum Wilson, Clara D.M. van Karnebeek, Vincenzo Leuzzi, Nenad Blau, Gwendolyn Gramer, Kimberly K. Powell, William B. Hanley, Carla E. M. Hollak, Miroslaw Bik-Multanowski, F. K. Trefz, Maja Djordjevic, K. Ahring, Jozef Hertecant, Fatma Derya Bulut, François Feillet, Annemiek M. J. van Wegberg, Danique van Vliet, Natalia Usurelu, Bozena Didycz, Kari Casas, Frank Rutsch, Jens V. Jørgensen, Maria Gizewska, Antonio Federico, Aria Setoodeh, Kathryn Moseley, Francesca Nardecchia, Francjan J. van Spronsen, Yuval Landau, Per Mathisen, Daniela Karall
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26eeba37bcb008737d1ce3ca537ceded
http://hdl.handle.net/11573/1141993
http://hdl.handle.net/11573/1141993
Autor:
Amaya Belanger-Quintana, François Maillot, François Feillet, F. K. Trefz, Vincenzo Leuzzi, Stephan C. J. Huijbregts, K. Ahring, Annemiek M. J. van Wegberg, Ania C. Muntau, Margreet van Rijn, Alberto Burlina, Jaime Campistol, Shauna Kearney, A. MacDonald, Maria Gizewska, Francjan J. van Spronsen, Nenad Blau, John H. Walter, Annet M. Bosch
Publikováno v:
LANCET DIABETES & ENDOCRINOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Lancet Diabetes & Endocrinology, 5, 9, pp. 743-756
Lancet Diabetes & Endocrinology, 5, 743-756
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Lancet Diabetes & Endocrinology, 5, 9, pp. 743-756
Lancet Diabetes & Endocrinology, 5, 743-756
Item does not contain fulltext We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7403539b38a747f2d94f9f4c478f03f1
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10697
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10697
Autor:
Jaime Campistol, Maria Gizewska, F. K. Trefz, Francjan J. van Spronsen, Shauna Kearney, Nenad Blau, Margreet van Rijn, K. Ahring, Amaya Belanger-Quintana, Alberto Burlina, Annet M. Bosch, François Feillet, Anita MacDonald, Vincenzo Leuzzi, Stephan C. J. Huijbregts, Annemiek M. J. van Wegberg, François Maillot, Ania C. Muntau
Publikováno v:
Lancet Diabetes & Endocrinology, 5(9), 683-684. ELSEVIER SCIENCE INC
Lancet Diabetes & Endocrinology, 5, 9, pp. 683-684
Lancet Diabetes & Endocrinology, 5, 683-684
Lancet Diabetes & Endocrinology, 5, 9, pp. 683-684
Lancet Diabetes & Endocrinology, 5, 683-684
Item does not contain fulltext
Autor:
Johannes M. Penzien, Sven F. Garbade, Georg F. Hoffmann, F. K. Trefz, Christine U. Vohwinkel, Johannes Zschocke, Peter Burgard, Dorothea Haas, Nicole Muschol
Publikováno v:
Journal of Inherited Metabolic Disease. 30:375-387
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome caused by deficiency of 7-dehydrocholesterol reductase catalysing the last step of cholesterol biosynthesis. This results in an accumulation of 7- and 8-dehydrocholesterol (7 + 8-DHC) and,
Autor:
Colleen Azen, William B. Hanley, Reuben Matalon, Susan E. Waisbren, Kimberlee Michals-Matalon, Bobbye Rouse, F. de la Cruz, Richard Koch, F. K. Trefz
Publikováno v:
Journal of Inherited Metabolic Disease. 27:711-723
Analysis of outcome data from 305 of the 414 offspring from the Maternal Phenylketonuria Collaborative Study (MPKUCS), plus 70 control offspring, revealed significant deficits in the IQ (intelligence quotient), as measured by the Wechsler Intelligenc
Autor:
Harvey L. Levy, Bobbye Rouse, Reuben Matalon, Eva Gross Friedman, Richard Koch, Lawrence D. Platt, Flemming Güttler, F. K. Trefz, F. de la Cruz, Colleen Azen, William B. Hanley
Publikováno v:
Molecular Genetics and Metabolism. 71:233-239
Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally