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An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemiaOPLADEN, Thomas; HOFFMANN, Georg F; BLAU, Nenad et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 6, pp 963-973, issn 0141-8955, 11 p.Article

50 years of Newborn ScreeningHOFFMANN, Georg F; LINDNER, Martin; LOEBER, Gerard et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, issn 0141-8955, 158 p.Serial Issue

Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuriaSCHULZE, Andreas; MAYATEPEK, Ertan; HOFFMANN, Georg F et al.Clinica chimica acta. 2002, Vol 317, Num 1-2, pp 27-37, issn 0009-8981Article

Mutation Analysis in Metabolic Disease: Change in Clinical Practice?ZSCHOCKE, Johannes; STEINMANN, Beat; HOFFMANN, Georg F et al.European journal of pediatrics. Supplement. 2000, Vol 159, Num 3, issn 0943-9676, 77 p.Conference Proceedings

Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalonsKÖLKER, Stefan; AHLEMEYER, Barbara; KRIEGLSTEIN, Josef et al.Pediatric research. 2001, Vol 50, Num 1, pp 76-82, issn 0031-3998Article

Liver transplantation for inborn errors of metabolismMEYBURG, Jochen; HOFFMANN, Georg F.Transplantation. 2005, Vol 80, Num 7, pp S135-S137, issn 0041-1337, SUPConference Paper

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme a dehydrogenase geneKÖLKER, Stefan; RAMAEKERS, Vincent T; ZSCHOCKE, Johannes et al.The Journal of pediatrics. 2001, Vol 138, Num 2, pp 277-279, issn 0022-3476Article

Spectrophotometric microassay for δ-aminolevulinate dehydratase in dried-blood spots as confirmation for Hereditary tyrosinemia type ISCHULZE, Andreas; FROMMHOLD, David; HOFFMANN, Georg F et al.Clinical chemistry (Baltimore, Md.). 2001, Vol 47, Num 8, pp 1424-1429, issn 0009-9147Article

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemiaZWICKLER, Tamaris; RIDERER, Alina; HAEGE, Gisela et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 1, pp 31-37, issn 0141-8955, 7 p.Article

Determinants of Blood Pressure in Preschool Children: The Role of Parental SmokingSIMONETTI, Giacomo D; SCHWERTZ, Rainer; KLETT, Martin et al.Circulation (New York, N.Y.). 2011, Vol 123, Num 3, pp 292-298, issn 0009-7322, 7 p.Article

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experienceOPLADEN, Thomas; ABU SEDA, Bettina; RASSI, Anahita et al.Journal of inherited metabolic disease. 2011, Vol 34, Num 3, pp 819-826, issn 0141-8955, 8 p.Article

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiencyKÖLKER, Stefan; KOELLER, David M; OKUN, Jürgen G et al.Annals of neurology. 2004, Vol 55, Num 1, pp 7-12, issn 0364-5134, 6 p.Article

L-alanine supplementation in late infantile glycogen storage disease type IIBODAMER, Olaf A; HAAS, Dorothea; HERMANS, Monique M et al.Pediatric neurology. 2002, Vol 27, Num 2, pp 145-146, issn 0887-8994Article

Considering consent: a structural equation modelling analysis of factors influencing decisional quality when accepting newborn screeningNICHOLLS, Stuart G; SOUTHERN, Kevin W.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, pp 197-205, issn 0141-8955, 9 p.Article

The pattern of down syndrome among children in Qatar : A population-based studyATQAH ABDUL WAHAB; BENER, Abdulbari; SANDRIDGE, Amy L et al.Birth defects research. Clinical and molecular teratology. 2006, Vol 76, Num 8, pp 609-612, issn 1542-0752, 4 p.Article

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implicationsSCHULZE, Andreas; LINDNER, Martin; KOHLMÜLLER, Dirk et al.Pediatrics (Evanston). 2003, Vol 111, Num 6, pp 1399-1406, issn 0031-4005, 8 p., 1Article

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff valuesOPLADEN, Thomas; OKUN, Jürgen G; BURGARD, Peter et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 6, pp 697-703, issn 0141-8955, 7 p.Article

Newborn screeningCORNEJO, Veronica; HOFFMANN, Georg F; POLLITT, Rodney et al.Journal of inherited metabolic disease. 2010, Vol 33, issn 0141-8955, 125 p., SUP2Conference Proceedings

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiencyPASQUALI, Marzia; SCHWARZ, Elisabeth; JENSEN, Maren et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, pp 231-236, issn 0141-8955, 6 p.Article

Sepiapterin Reductase Deficiency: A Treatable Mimic of Cerebral PalsyFRIEDMAN, Jennifer; ROZE, Emmanuel; PARASCANDALO, Ray et al.Annals of neurology. 2012, Vol 71, Num 4, pp 520-530, issn 0364-5134, 11 p.Article

Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999-2007RÖSER, Dennis; NIELSEN, Henrik Vedel; PETERSEN, Eskild et al.Journal of inherited metabolic disease. 2010, Vol 33, issn 0141-8955, S241-S247, SUP2Conference Paper

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiencyCOMEAU, Anne Marie; HALE, Jaime E; EATON, Roger B et al.Journal of inherited metabolic disease. 2010, Vol 33, issn 0141-8955, S273-S281, SUP2Conference Paper

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type IHARTING, Inga; NEUMAIER-PROBST, Eva; HOFFMANN, Georg F et al.Brain. 2009, Vol 132, pp 1764-1782, issn 0006-8950, 19 p., 7Article

Liver cell transplantation in childrenMEYBURG, Jochen; SCHMIDT, Jan; HOFFMANN, Georg F et al.Clinical transplantation. 2009, Vol 23, pp 75-82, issn 0902-0063, 8 p., SUP21Conference Paper

Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency : Observation of 6 Patients in 4 FamiliesMOUCHEGH, Katharina; ZIKANOVA, Marie; ZEMAN, Jiri et al.The Journal of pediatrics. 2007, Vol 150, Num 1, pp 57-61, issn 0022-3476, 5 p.Article

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