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Friedrich Trefz
Friedrich Trefz
Senior Pediatric Consulatant, Arzt für Kinder und Jugendmedizin, Pädiatrische Diabetologie und
Verified email at med.uni-heidelberg.de - Homepage
Title
Cited by
Cited by
Year
The complete European guidelines on phenylketonuria: diagnosis and treatment
AMJ Van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, ...
Orphanet journal of rare diseases 12, 1-56, 2017
7262017
Key European guidelines for the diagnosis and management of patients with phenylketonuria
FJ Van Spronsen, AMJ van Wegberg, K Ahring, A Bélanger-Quintana, ...
The lancet Diabetes & endocrinology 5 (9), 743-756, 2017
4312017
Aspartame: review of safety
HH Butchko, WW Stargel, CP Comer, DA Mayhew, C Benninger, ...
Regulatory Toxicology and Pharmacology 35 (2), S1-S93, 2002
3872002
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised …
HL Levy, A Milanowski, A Chakrapani, M Cleary, P Lee, FK Trefz, ...
The Lancet 370 (9586), 504-510, 2007
3532007
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
GF Hoffmann, C Charpentier, E Mayatepek, J Mancini, M Leichsenring, ...
Pediatrics 91 (5), 915-921, 1993
3311993
Molecular basis of phenotypic heterogeneity in phenylketonuria
Y Okano, RC Eisensmith, F Güttler, U Lichter-Konecki, DS Konecki, ...
New England Journal of Medicine 324 (18), 1232-1238, 1991
2871991
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
CA Stanley, S DeLeeuw, PM Coates, C Vianey‐Liaud, P Divry, ...
Annals of Neurology: Official Journal of the American Neurological …, 1991
2361991
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
FK Trefz, BK Burton, N Longo, MMP Casanova, DJ Gruskin, A Dorenbaum, ...
The Journal of pediatrics 154 (5), 700-707. e1, 2009
2332009
Efficacy and outcome of expanded newborn screening for metabolic diseases-report of 10 years from South-West Germany
M Lindner, G Gramer, G Haege, J Fang-Hoffmann, KO Schwab, U Tacke, ...
Orphanet journal of rare diseases 6, 1-10, 2011
2262011
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997
P Burgard, HJ Bremer, P Bührdel, PC Clemens, E Mönch, H Przyrembel, ...
European journal of pediatrics 158, 46-54, 1999
1961999
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
1932020
Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
N Blau, A Bélanger-Quintana, M Demirkol, F Feillet, M Giovannini, ...
Molecular genetics and metabolism 96 (4), 158-163, 2009
1862009
L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease
PG Barth, GF Hoffmann, J Jaeken, W Lehnert, F Hanefeld, ...
Annals of neurology 32 (1), 66-71, 1992
1751992
PKU dietary handbook to accompany PKU guidelines
A MacDonald, AMJ Van Wegberg, K Ahring, S Beblo, ...
Orphanet journal of rare diseases 15, 1-21, 2020
1602020
Clinical presentation and outcome in a series of 88 patients with the cblC defect
S Fischer, M Huemer, M Baumgartner, F Deodato, D Ballhausen, A Boneh, ...
Journal of inherited metabolic disease 37, 831-840, 2014
1592014
Management of phenylketonuria in Europe: survey results from 19 countries
N Blau, A Bélanger-Quintana, M Demirkol, F Feillet, M Giovannini, ...
Molecular genetics and metabolism 99 (2), 109-115, 2010
1572010
Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae
B Rouse, C Azen, R Koch, R Matalon, W Hanley, F De La Cruz, F Trefz, ...
American journal of medical genetics 69 (1), 89-95, 1997
1561997
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability
Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ...
The American Journal of Human Genetics 100 (2), 257-266, 2017
1492017
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy
W Grodd, I Krägeloh-Mann, D Petersen, FK Trefz, K Harzer
The Lancet 336 (8712), 437-438, 1990
1391990
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study
HL Levy, P Guldberg, F Güttler, WB Hanley, R Matalon, BM Rouse, F Trefz, ...
Pediatric research 49 (5), 636-642, 2001
1302001
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