1 - 25 of 39 results for author:"Hoffmann G.F." in Literature citations
Results Customize
› Repeat search in UniProtKB (15)
| DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Danhauser K., Sauer S.W., Haack T.B., Wieland T., Staufner C., Graf E., Zschocke J., Strom T.M., Traub T., Okun J.G. et al. Am. J. Hum. Genet. 91:1082-1087(2012) · Mapped (1) |
| PRRT2 Mutations are the major cause of benign familial infantile seizures. Schubert J., Paravidino R., Becker F., Berger A., Bebek N., Bianchi A., Brockmann K., Capovilla G., Bernardina B.D., Fukuyama Y. et al. Hum. Mutat. 33:1439-1443(2012) · UniProtKB (1) |
| Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. Thiel C., Rind N., Popovici D., Hoffmann G.F., Hanson K., Conway R.L., Adamski C.R., Butler E., Scanlon R., Lambert M. et al. Hum. Mutat. 33:485-487(2012) · UniProtKB (1) |
| Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Schneider A., Thiel C., Rindermann J., DeRossi C., Popovici D., Hoffmann G.F., Grone H.J., Korner C. Nat. Med. 18:71-73(2012) · Mapped (5) |
| Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Kurian M.A., Li Y., Zhen J., Meyer E., Hai N., Christen H.J., Hoffmann G.F., Jardine P., von Moers A., Mordekar S.R. et al. Lancet Neurol 10:54-62(2011) · Mapped (3) |
| Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration. Peters V., Jansen E.E., Jakobs C., Riedl E., Janssen B., Yard B.A., Wedel J., Hoffmann G.F., Zschocke J., Gotthardt D. et al. Clin. Chim. Acta 412:263-267(2011) · Mapped (3) |
| A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Morava E., Wevers R.A., Cantagrel V., Hoefsloot L.H., Al-Gazali L., Schoots J., van Rooij A., Huijben K., van Ravenswaaij-Arts C.M., Jongmans M.C. et al. Brain 133:3210-3220(2010) · Mapped (1) |
| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Brun L., Ngu L.H., Keng W.T., Ch'ng G.S., Choy Y.S., Hwu W.L., Lee W.T., Willemsen M.A., Verbeek M.M., Wassenberg T. et al. Neurology 75:64-71(2010) · Mapped (3) |
| Expression and function of matrix Gla protein in human peritoneal mesothelial cells. Zhai Y., Chen L., Homme M., Hackert T., Gross M.L., Hoffmann G.F., Schaefer F., Schmitt C.P. Nephrol. Dial. Transplant. 25:3213-3221(2010) · Mapped (2) |
| Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. van Kuilenburg A.B., Dobritzsch D., Meijer J., Meinsma R., Benoist J.F., Assmann B., Schubert S., Hoffmann G.F., Duran M., de Vries M.C. et al. Biochim. Biophys. Acta 1802:639-648(2010) · Mapped (1) |
| A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. Rauschenberger K., Scholer K., Sass J.O., Sauer S., Djuric Z., Rumig C., Wolf N.I., Okun J.G., Kolker S., Schwarz H. et al. EMBO Mol Med 2:51-62(2010) · Mapped (3) |
| Molecular neonatal screening for homocystinuria in the Qatari population. Zschocke J., Kebbewar M., Gan-Schreier H., Fischer C., Fang-Hoffmann J., Wilrich J., Abdoh G., Ben-Omran T., Shahbek N., Lindner M. et al. Hum. Mutat. 30:1021-1022(2009) · Mapped (6) |
| A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease. von Mering M., Gabriel H., Opladen T., Hoffmann G.F., Storch A. J. Neurol. Neurosurg. Psychiatr. 79:229-229(2008) · Mapped (5) |
| LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. Al-Dirbashi O.Y., Abu-Amero K.K., Alswaid A.F., Hoffmann G.F., Al-Qahtani K., Rashed M.S. J. Inherit. Metab. Dis. 30:611-611(2007) · Mapped (2) |
| Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? Elsaid M.F., Bener A., Lindner M., Alzyoud M., Shahbek N., Abdelrahman M.O., Abdoh G., Bessisso M.S., Zschocke J., Hoffmann G.F. Mol. Genet. Metab. 92:100-103(2007) · Mapped (6) |
| Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Horster F., Baumgartner M.R., Viardot C., Suormala T., Burgard P., Fowler B., Hoffmann G.F., Garbade S.F., Kolker S., Baumgartner E.R. Pediatr. Res. 62:225-230(2007) · Mapped (9) |
| Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Sauer S.W., Kolker S., Hoffmann G.F., Ten Brink H.J., Jakobs C., Gibson K.M., Okun J.G. Neurochem. Int. 50:653-659(2007) · Mapped (2) |
| Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. Mouchegh K., Zikanova M., Hoffmann G.F., Kretzschmar B., Kuhn T., Mildenberger E., Stoltenburg-Didinger G., Krijt J., Dvorakova L., Honzik T. et al. J. Pediatr. 150:57-61.e2(2007) · Mapped (6) |
| Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Mack M., Schniegler-Mattox U., Peters V., Hoffmann G.F., Liesert M., Buckel W., Zschocke J. FEBS J. 273:2012-2022(2006) · Mapped (2) |
| Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Sauer S.W., Okun J.G., Fricker G., Mahringer A., Muller I., Crnic L.R., Muhlhausen C., Hoffmann G.F., Horster F., Goodman S.I. et al. J. Neurochem. 97:899-910(2006) · Mapped (6) |
| Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Kulkens S., Harting I., Sauer S., Zschocke J., Hoffmann G.F., Gruber S., Bodamer O.A., Kolker S. Neurology 64:2142-2144(2005) · Mapped (5) |
| Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. Sauer S.W., Okun J.G., Schwab M.A., Crnic L.R., Hoffmann G.F., Goodman S.I., Koeller D.M., Kolker S. J. Biol. Chem. 280:21830-21836(2005) · Mapped (3) |
| Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Mills P.B., Surtees R.A.H., Champion M.P., Beesley C.E., Dalton N., Scambler P.J., Heales S.J.R., Briddon A., Scheimberg I., Hoffmann G.F. et al. Hum. Mol. Genet. 14:1077-1086(2005) · UniProtKB (1) · Mapped (4) |
| Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. van Kuilenburg A.B.P., Meinsma R., Beke E., Assmann B., Ribes A., Lorente I., Busch R., Mayatepek E., Abeling N.G.G.M., van Cruchten A. et al. Hum. Mol. Genet. 13:2793-2801(2004) · UniProtKB (1) · Mapped (5) |
| Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Stojanov S., Lohse P., Lohse P., Hoffmann F., Renner E.D., Zellerer S., Kery A., Shin Y.S., Haas D., Hoffmann G.F. et al. Arthritis Rheum. 50:1951-1958(2004) · Mapped (9) |