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 | 744 | 2017 |
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 | 440 | 2017 |
Aspartame: review of safety HH Butchko, WW Stargel, CP Comer, DA Mayhew, C Benninger, ... Regulatory Toxicology and Pharmacology 35 (2), S1-S93, 2002 | 388 | 2002 |
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 | 355 | 2007 |
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 | 330 | 1993 |
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 | 287 | 1991 |
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 | 237 | 1991 |
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 | 233 | 2009 |
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 | 228 | 2011 |
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 | 213 | 2020 |
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 | 197 | 1999 |
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 | 187 | 2009 |
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 | 177 | 1992 |
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 | 165 | 2020 |
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 | 162 | 2014 |
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 | 159 | 2010 |
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 | 158 | 1997 |
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 | 155 | 2017 |
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 | 139 | 1990 |
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 | 132 | 2001 |