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Items: 1 to 50 of 136

1.

Organic acidurias in adults: late complications and management.

Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S.

J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15.

PMID:
29335813
2.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

3.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

Hörster F, Kölker S, Loeber JG, Cornel MC, Hoffmann GF, Burgard P.

JIMD Rep. 2017;32:105-115. doi: 10.1007/8904_2016_537. Epub 2016 Jun 26.

4.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
5.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
6.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA.

Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2.

PMID:
25642805
7.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

8.

Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.

Morath MA, Hörster F, Sauer SW.

Pediatr Nephrol. 2013 Feb;28(2):227-35. doi: 10.1007/s00467-012-2245-2. Epub 2012 Jul 20. Review.

PMID:
22814947
9.

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

Zwickler T, Haege G, Riderer A, Hörster F, Hoffmann GF, Burgard P, Kölker S.

J Inherit Metab Dis. 2012 Sep;35(5):797-806. doi: 10.1007/s10545-011-9426-1. Epub 2012 Jan 17.

PMID:
22249333
10.

Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents.

Grulich-Henn J, Lichtenstein S, Hörster F, Hoffmann GF, Nawroth PP, Hamann A.

Int J Endocrinol. 2011;2011:541021. doi: 10.1155/2011/541021. Epub 2011 Aug 22.

11.

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.

Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N.

Mov Disord. 2011 Jan;26(1):157-61. doi: 10.1002/mds.23329. Epub 2010 Sep 3.

PMID:
20818608
12.

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S.

J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. Erratum in: J Inherit Metab Dis. 2009 Dec;32(6):762-3.

PMID:
19642010
13.

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Haas D, Niklowitz P, Hörster F, Baumgartner ER, Prasad C, Rodenburg RJ, Hoffmann GF, Menke T, Okun JG.

J Inherit Metab Dis. 2009 Aug;32(4):570-5. doi: 10.1007/s10545-009-1150-8. Epub 2009 Jun 7.

PMID:
19504350
14.

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F.

J Inherit Metab Dis. 2009 Jun;32(3):371-80. doi: 10.1007/s10545-009-1076-1. Epub 2009 Jan 28.

PMID:
19172410
15.

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F.

J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27.

PMID:
18563634
16.

Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia.

Harting I, Seitz A, Geb S, Zwickler T, Porto L, Lindner M, Kölker S, Hörster F.

J Inherit Metab Dis. 2008 Jun;31(3):368-78. doi: 10.1007/s10545-008-0801-5. Epub 2008 May 9.

PMID:
18470632
17.

Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach.

Morath MA, Okun JG, Müller IB, Sauer SW, Hörster F, Hoffmann GF, Kölker S.

J Inherit Metab Dis. 2008 Feb;31(1):35-43. Epub 2007 Sep 12. Review.

PMID:
17846917
18.

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

Neurology. 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25.

PMID:
17652641
19.

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

PMID:
17597648
20.

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 SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S.

J Neurochem. 2006 May;97(3):899-910. Epub 2006 Mar 29.

21.

Phenylalanine reduces synaptic density in mixed cortical cultures from mice.

Hörster F, Schwab MA, Sauer SW, Pietz J, Hoffmann GF, Okun JG, Kölker S, Kins S.

Pediatr Res. 2006 Apr;59(4 Pt 1):544-8.

PMID:
16549526
22.

Disorders of intermediary metabolism: toxic leukoencephalopathies.

Hörster F, Surtees R, Hoffmann GF.

J Inherit Metab Dis. 2005;28(3):345-56. Review.

PMID:
15868467
23.

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Koeller DM, Sauer S, Hörster F, Schwab MA, Hoffmann GF, Ullrich K, Okun JG.

J Inherit Metab Dis. 2004;27(6):805-12. Review.

PMID:
15505385
24.

Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.

Hörster F, Hoffmann GF.

Pediatr Nephrol. 2004 Oct;19(10):1071-4. Epub 2004 Aug 4. Review.

PMID:
15293040
25.

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.

Schmitt CP, Mehls O, Trefz FK, Hörster F, Weber TL, Kölker S.

Pediatr Nephrol. 2004 Oct;19(10):1182-4. Epub 2004 Jul 16. No abstract available.

PMID:
15258847
26.

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.

Kölker S, Schwab M, Hörster F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JA, Okun JG.

J Biol Chem. 2003 Nov 28;278(48):47388-93. Epub 2003 Sep 12.

27.

Mortality rate of chronically ill geriatric patients with subnormal serum thyrotropin concentration: a 2-yr follow-up study.

Radácsi A, Kovács G, Bernard W, Feldkamp J, Horster FA, Szabolcs I.

Endocrine. 2003 Jul;21(2):133-6. Erratum in: Endocrine. 2003 Dec;22(3):341.

PMID:
12897375
28.

NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria.

Kölker S, Pawlak V, Ahlemeyer B, Okun JG, Hörster F, Mayatepek E, Krieglstein J, Hoffmann GF, Köhr G.

Eur J Neurosci. 2002 Jul;16(1):21-8.

PMID:
12153528
29.

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.

Kölker S, Köhr G, Ahlemeyer B, Okun JG, Pawlak V, Hörster F, Mayatepek E, Krieglstein J, Hoffmann GF.

Pediatr Res. 2002 Aug;52(2):199-206.

PMID:
12149496
30.

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.

Kölker S, Okun JG, Ahlemeyer B, Wyse AT, Hörster F, Wajner M, Kohlmüller D, Mayatepek E, Krieglstein J, Hoffmann GF.

J Neurosci Res. 2002 May 15;68(4):424-31.

PMID:
11992468
31.

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

Okun JG, Hörster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kölker S.

J Biol Chem. 2002 Apr 26;277(17):14674-80. Epub 2002 Feb 14.

32.

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.

Kölker S, Okun JG, Hörster F, Assmann B, Ahlemeyer B, Kohlmüller D, Exner-Camps S, Mayatepek E, Krieglstein J, Hoffmann GF.

J Neurosci Res. 2001 Nov 15;66(4):666-73.

PMID:
11746386
33.

Follow up of thyroid hormone parameters in chronically ill geriatric patients: screening for thyroid disorders at hospital admission justified.

Radácsi A, Bernard W, Feldkamp J, Horster FA, Szabolcs I.

Exp Clin Endocrinol Diabetes. 2000;108(4):290-3.

PMID:
10961360
34.

Ethanol-induced apoptotic neurodegeneration and fetal alcohol syndrome.

Ikonomidou C, Bittigau P, Ishimaru MJ, Wozniak DF, Koch C, Genz K, Price MT, Stefovska V, Hörster F, Tenkova T, Dikranian K, Olney JW.

Science. 2000 Feb 11;287(5455):1056-60.

35.

[Therapy of endemic goiter with iodide or l-thyroxine in older patients].

Feldkamp J, Seppel T, Mühlmeyer M, Becker A, Santen R, Schlaghecke R, Horster FA.

Dtsch Med Wochenschr. 1996 Dec 20;121(51-52):1587-91. German.

PMID:
9011485
36.

[Hyperthyroxinemia in nonsuppressed TSH. Its differential diagnosis and therapy].

Feldkamp J, Seppel T, Horster FA.

Dtsch Med Wochenschr. 1995 Sep 29;120(39):1323-6. Review. German. No abstract available.

PMID:
7555641
37.
38.

[Pathogenesis, diagnosis and therapy of hyperthyroidism].

Horster FA.

Z Arztl Fortbild (Jena). 1995 Feb;89(1):33-9. Review. German.

PMID:
7709642
39.

[Rational diagnosis of disorders of thyroid function].

Feldkamp J, Horster FA.

Z Arztl Fortbild (Jena). 1995 Feb;89(1):21-5. Review. German.

PMID:
7709640
41.

Surgical reintervention for differentiated thyroid cancer.

Goretzki PE, Simon D, Frilling A, Witte J, Reiners C, Grussendorf M, Horster FA, Röher HD.

Br J Surg. 1993 Aug;80(8):1009-12.

PMID:
8402050
42.
43.

Surgery for immunogenic hyperthyroidism.

Röher HD, Horster FA, Frilling A, Goretzki PE, Witte J.

Exp Clin Endocrinol. 1991 May;97(2-3):292-6. No abstract available.

PMID:
1915647
44.

[Morphology and function-based surgery in different forms of hyperthyroidism].

Röher HD, Horster FA, Frilling A, Goretzki PE.

Chirurg. 1991 Mar;62(3):176-81. German. No abstract available.

PMID:
1709844
45.

Palliative therapy of an ectopic Cushing's syndrome due to a metastatic carcinoid tumor.

Kornely E, Schlaghecke R, Horster FA.

Klin Wochenschr. 1991 Feb 26;69(4):173-6.

PMID:
1710306
47.

[Subtotal thyroid gland resection as therapy for thyrotoxic crises].

Frilling A, Goretzki PE, Horster FA, Grussendorf M, Röher HD.

Dtsch Med Wochenschr. 1990 May 11;115(19):735-9. German.

PMID:
2338059
48.

[Iodine deficiency and preventive use of iodine in West Germany].

Horster FA.

Internist (Berl). 1989 Dec;30(12):182-3. German. No abstract available.

PMID:
2621058
49.
50.

Effect of near total thyroidectomy on ophthalmopathy in patients with Graves' disease.

Grussendorf M, Inanc Y, Goretzki PE, Röher HD, Horster FA, Krüskemper HL.

Dev Ophthalmol. 1989;20:86-90. No abstract available.

PMID:
2591630

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