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Results: 1 to 20 of 115

1.

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A.

Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23.

PMID:
25251209
[PubMed - in process]
2.

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.

PMID:
25205257
[PubMed - in process]
Free PMC Article
3.

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

Laemmle A, Balmer C, Doell C, Sass JO, Häberle J, Baumgartner MR.

Eur J Pediatr. 2014 Jul;173(7):971-4. doi: 10.1007/s00431-014-2359-6. Epub 2014 Jun 11.

PMID:
24916042
[PubMed - in process]
4.

Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models.

Kovacs Z, Werner B, Rassi A, Sass JO, Martin-Fiori E, Bernasconi M.

J Control Release. 2014 Aug 10;187:74-82. doi: 10.1016/j.jconrel.2014.05.033. Epub 2014 May 27. Erratum in: J Control Release. 2014 Oct 28;192:294.

PMID:
24878186
[PubMed - in process]
5.

Amino acids regulate transgene expression in MDCK cells.

Torrente M, Guetg A, Sass JO, Arps L, Ruckstuhl L, Camargo SM, Verrey F.

PLoS One. 2014 May 5;9(5):e96823. doi: 10.1371/journal.pone.0096823. eCollection 2014.

PMID:
24797296
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Ketone body metabolism and its defects.

Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y.

J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.

PMID:
24706027
[PubMed - in process]
7.

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.

Grünert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO.

J Diabetes Metab Disord. 2013 Jul 5;12(1):37. doi: 10.1186/2251-6581-12-37.

PMID:
23829977
[PubMed]
Free PMC Article
8.

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.

Grünert SC, Brichta CM, Krebs A, Clement HW, Rauh R, Fleischhaker C, Hennighausen K, Sass JO, Schwab KO.

Nutr J. 2013 May 14;12:60. doi: 10.1186/1475-2891-12-60.

PMID:
23672685
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic basis of hyperlysinemia.

Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M.

Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57.

PMID:
23570448
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.

Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G.

JIMD Rep. 2012;5:35-43. doi: 10.1007/8904_2011_89. Epub 2011 Dec 17.

PMID:
23430915
[PubMed]
Free PMC Article
11.

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.

J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19.

PMID:
23420214
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB.

Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27.

PMID:
23414711
[PubMed - indexed for MEDLINE]
13.

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6. Epub 2013 Jan 25.

PMID:
23355087
[PubMed - indexed for MEDLINE]
14.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO.

Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6.

PMID:
23305374
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.

Nakamura M, Yuichiro Y, Sass JO, Tomohiro M, Schwab KO, Takeshi N, Tatsuo H, Ichida K.

Clin Chim Acta. 2012 Dec 24;414:158-60. doi: 10.1016/j.cca.2012.08.011. Epub 2012 Aug 17.

PMID:
22981351
[PubMed - indexed for MEDLINE]
16.

Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.

van Weeghel M, te Brinke H, van Lenthe H, Kulik W, Minkler PE, Stoll MS, Sass JO, Janssen U, Stoffel W, Schwab KO, Wanders RJ, Hoppel CL, Houten SM.

FASEB J. 2012 Oct;26(10):4316-26. doi: 10.1096/fj.12-206326. Epub 2012 Jul 10.

PMID:
22782973
[PubMed - indexed for MEDLINE]
Free Article
17.

Expression of aspartoacylase (ASPA) and Canavan disease.

Sommer A, Sass JO.

Gene. 2012 Sep 1;505(2):206-10. doi: 10.1016/j.gene.2012.06.036. Epub 2012 Jun 28.

PMID:
22750302
[PubMed - indexed for MEDLINE]
18.

Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

Speckmann C, Neumann C, Borte S, la Marca G, Sass JO, Wiech E, Fisch P, Schwarz K, Buchholz B, Schlesier M, Felgentreff K, Grimbacher B, Santisteban I, Bali P, Hershfield MS, Ehl S.

J Allergy Clin Immunol. 2012 Oct;130(4):991-4. doi: 10.1016/j.jaci.2012.04.004. Epub 2012 May 10. No abstract available.

PMID:
22578972
[PubMed - indexed for MEDLINE]
19.

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R.

Mol Genet Metab. 2012 Mar;105(3):433-7. doi: 10.1016/j.ymgme.2011.11.200. Epub 2011 Dec 8.

PMID:
22214819
[PubMed - indexed for MEDLINE]
20.

Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?

Sass JO.

J Inherit Metab Dis. 2012 Jan;35(1):1. doi: 10.1007/s10545-011-9420-7. Epub 2011 Dec 3. No abstract available.

PMID:
22139495
[PubMed - indexed for MEDLINE]

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