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Items: 1 to 50 of 99

1.

THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO).

Wimmershoff J, Kuehni-Boghenbor K, Sewell AC, Oevermann A, Farwanah H, Robert N, Hoby S, Wenker C, Stoffel MH.

J Zoo Wildl Med. 2018 Jun;49(2):335-344. doi: 10.1638/2017-0199.1.

PMID:
29900785
2.

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Lepori V, Mühlhause F, Sewell AC, Jagannathan V, Janzen N, Rosati M, Alves de Sousa FMM, Tschopp A, Schüpbach G, Matiasek K, Tipold A, Leeb T, Kornberg M.

G3 (Bethesda). 2018 May 4;8(5):1545-1554. doi: 10.1534/g3.118.200084.

3.

Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier.

McLauchlan G, McLaughlin A, Sewell AC, Bell R.

J Am Anim Hosp Assoc. 2015 Jul-Aug;51(4):285-8. doi: 10.5326/JAAHA-MS-6195. Epub 2015 Jun 17.

PMID:
26083440
4.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

5.

Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats.

Hooijberg EH, Furman E, Leidinger J, Brandstetter D, Hochleithner C, Sewell AC, Leidinger E, Giger U.

Tierarztl Prax Ausg K Kleintiere Heimtiere. 2015;43(3):188-92. doi: 10.15654/TPK-140841. Epub 2015 May 13.

6.

Jürgen Herwig.

Sewell AC, Hennermann JB.

J Inherit Metab Dis. 2015 Jul;38(4):775. doi: 10.1007/s10545-015-9853-5. No abstract available.

PMID:
25917790
7.

Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis).

Herder V, Kummrow M, Leeb T, Sewell AC, Hansmann F, Lehmbecker A, Wohlsein P, Baumgärtner W.

Vet Pathol. 2015 May;52(3):543-52. doi: 10.1177/0300985814549210. Epub 2014 Sep 17.

PMID:
25232033
8.

Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).

Buxmann H, Eggermann T, Lorenz D, Sewell AC, Böhles H, Schlößer RL, Merz E.

Ultraschall Med. 2014 Oct;35(5):473-4. doi: 10.1055/s-0034-1366442. Epub 2014 May 13. No abstract available.

PMID:
24824759
9.

Interference of an algal nutritional supplement with a urinary metabolic screening test for glycosaminoglycans in a dog suspected to have a storage disease.

Sewell AC, Pankraz A.

Vet Clin Pathol. 2013 Dec;42(4):504-7. doi: 10.1111/vcp.12096. Epub 2013 Oct 25.

PMID:
24320782
10.

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U.

J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3.

11.

Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency.

Lutz S, Sewell AC, Reusch CE, Kook PH.

J Am Anim Hosp Assoc. 2013 May-Jun;49(3):197-203. doi: 10.5326/JAAHA-MS-5867. Epub 2013 Mar 27.

PMID:
23535754
12.

Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.

Sewell AC, Haskins ME, Giger U.

Vet Clin Pathol. 2012 Dec;41(4):548-57. doi: 10.1111/j.1939-165x.2012.00485.x. Epub 2012 Nov 2.

13.

[Evaluation of serum cobalamin concentration in cats with clinical signs of gastrointestinal disease].

Kook PH, Lutz S, Sewell AC, Bigler B, Reusch CE.

Schweiz Arch Tierheilkd. 2012 Nov;154(11):479-86. doi: 10.1024/0036-7281/a000391. German.

14.

Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds.

Lutz S, Sewell AC, Bigler B, Riond B, Reusch CE, Kook PH.

Am J Vet Res. 2012 Aug;73(8):1194-9. doi: 10.2460/ajvr.73.8.1194.

PMID:
22849680
15.

An inherited episodic head tremor syndrome in Doberman pinscher dogs.

Wolf M, Bruehschwein A, Sauter-Louis C, Sewell AC, Fischer A.

Mov Disord. 2011 Nov;26(13):2381-6. doi: 10.1002/mds.23936. Epub 2011 Sep 13.

PMID:
21915908
16.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.

17.

Hypocretin measurement in an Icelandic foal with narcolepsy.

Bathen-Nöthen A, Heider C, Fernandez AJ, Beineke A, Sewell AC, Otto M, Tipold A.

J Vet Intern Med. 2009 Nov-Dec;23(6):1299-302. doi: 10.1111/j.1939-1676.2009.0400.x. No abstract available.

18.

Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex.

Kreutzer R, Kreutzer M, Sewell AC, Techangamsuwan S, Leeb T, Baumgärtner W.

Biochim Biophys Acta. 2009 Oct;1792(10):982-7. doi: 10.1016/j.bbadis.2009.07.004. Epub 2009 Jul 14.

19.

Paediatric age-dependent serum transferrin isoform distribution studied by HPLC.

Arndt T, Stanzel S, Sewell AC.

Clin Lab. 2007;53(9-12):575-82.

PMID:
18257464
20.

Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.

Kreutzer R, Kreutzer M, Pröpsting MJ, Sewell AC, Leeb T, Naim HY, Baumgärtner W.

J Cell Mol Med. 2008 Sep-Oct;12(5A):1661-71. Epub 2007 Dec 14.

21.

Ethylmalonic encephalopathy: clinical and biochemical observations.

Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N.

Neuropediatrics. 2007 Apr;38(2):78-82.

PMID:
17712735
22.

Inherited metabolic disease in companion animals: searching for nature's mistakes.

Sewell AC, Haskins ME, Giger U.

Vet J. 2007 Sep;174(2):252-9. Epub 2006 Nov 7. Review.

23.
24.

Feline primary hyperoxaluria.

Sewell AC.

J Feline Med Surg. 2006 Aug;8(4):290. No abstract available.

PMID:
16603399
25.

Acceptance of extended newborn screening: the problem of parental non-compliance.

Sewell AC, Gebhardt B, Herwig J, Rauterberg EW.

Eur J Pediatr. 2004 Dec;163(12):755-6. No abstract available.

PMID:
15480776
26.

Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides.

Muth A, Mosandl A, Wanders RJ, Nowaczyk MJ, Baric I, Böhles H, Sewell AC.

J Inherit Metab Dis. 2003;26(6):583-92.

PMID:
14605504
27.

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.

Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz KF, Sewell AC, Kauf E, Zintl F, Lehnert W, Gregersen N.

J Inherit Metab Dis. 2003;26(1):37-42.

PMID:
12872838
28.

Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome.

Muth A, Jung J, Bilke S, Scharrer A, Mosandl A, Sewell AC, Böhles H.

J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 25;792(2):269-77.

PMID:
12860034
29.

Multidimensional gas chromatography-mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells.

Muth A, Mosandl A, Bursen A, Marschalek R, Sewell AC, Böhles H.

J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 5;791(1-2):235-44.

PMID:
12798183
30.

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.

Evangeliou A, Lionis C, Michailidou H, Spilioti M, Kanitsakis A, Nikitakis P, Drakonakis N, Giannakopoulou C, Sbyrakis S, Sewell AC, Boehles HJ, Smeitink J, Wevers RA.

J Inherit Metab Dis. 2001 Dec;24(8):877-80. No abstract available.

PMID:
11916324
31.

Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis.

Böhles H, Gebhardt B, Beeg T, Sewell AC, Solem E, Posselt G.

J Pediatr. 2002 Jan;140(1):103-9.

PMID:
11815772
32.

Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease.

Sewell AC, Murphy HC, Iles RA.

Clin Chem. 2002 Feb;48(2):357-9. No abstract available.

33.

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N.

Pediatr Res. 2001 Jan;49(1):18-23.

PMID:
11134486
34.

Rapid enantiomeric differentiation of urinary metabolites in a patient with bacterial overgrowth syndrome.

Sewell AC, Heil M, Blieke A, Mosandl A, Böhles H.

Clin Chem. 2000 Sep;46(9):1444-5. No abstract available.

35.

Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.

Heil M, Podebrad F, Prado E, Beck T, Mosand A, Sewell AC, Böhles H, Lehnert W.

J Chromatogr B Biomed Sci Appl. 2000 Mar 10;739(2):313-24.

PMID:
10755375
36.
37.

Normal kynurenine metabolism in 2-oxoadipic aciduria.

Sewell AC, Herwig J, Böhles H, Abeling NG, van Gennip AH.

J Inherit Metab Dis. 1999 Dec;22(8):949-50. No abstract available.

PMID:
10604155
38.

False diagnosis of maple syrup urine disease owing to ingestion of herbal tea.

Sewell AC, Mosandl A, Böhles H.

N Engl J Med. 1999 Sep 2;341(10):769. No abstract available.

PMID:
10475807
39.

Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.

Augoustides-Savvopoulou P, Mylonas I, Sewell AC, Rosenblatt DS.

J Inherit Metab Dis. 1999 Aug;22(6):756-8. No abstract available.

PMID:
10472537
40.

N-acetylaspartylglutamate in Canavan disease: an adverse effector?

Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB.

Eur J Pediatr. 1999 May;158(5):406-9.

PMID:
10333125
41.

4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease.

Podebrad F, Heil M, Reichert S, Mosandl A, Sewell AC, Böhles H.

J Inherit Metab Dis. 1999 Apr;22(2):107-14.

PMID:
10234605
42.

Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn.

Böhles H, Arndt S, Ohlenschläger U, Beeg T, Gebhardt B, Sewell AC.

Eur J Pediatr. 1999 Mar;158(3):243-6.

PMID:
10094448
43.
44.

Zidovudine and confusion in urinary metabolic screening.

Sewell AC.

Lancet. 1998 Oct 10;352(9135):1227. No abstract available.

PMID:
9777871
45.

Enantioselective multidimensional gas chromatography-mass spectrometry in the analysis of urinary organic acids.

Heil M, Podebrad F, Beck T, Mosandl A, Sewell AC, Böhles H.

J Chromatogr B Biomed Sci Appl. 1998 Sep 4;714(2):119-26.

PMID:
9766851
46.

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.

Sewell AC, Herwig J, Wiegratz I, Lehnert W, Niederhoff H, Song XQ, Kondo N, Fukao T.

J Inherit Metab Dis. 1998 Jun;21(4):441-2. No abstract available.

PMID:
9700610
47.

Infantile muscle phosphorylase-b-kinase deficiency. A case report.

Sahin G, Güngör T, Rettwitz-Volk W, Schlote W, Shin YS, Podskarbi T, Sewell AC.

Neuropediatrics. 1998 Feb;29(1):48-50.

PMID:
9553951
48.

Chiral compounds in metabolism: a look in the molecular mirror.

Sewell AC, Heil M, Podebrad F, Mosandl A.

Eur J Pediatr. 1998 Mar;157(3):185-91. Review.

PMID:
9537483
49.

Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis.

Sewell AC, Herwig J, Böhles HJ, Sperl W.

J Inherit Metab Dis. 1997 Nov;20(6):837-8. No abstract available.

PMID:
9427157
50.

D-(+)-glyceric aciduria in an Afghan hound.

Sewell AC, Moritz A, Duran M.

J Inherit Metab Dis. 1997 Jul;20(3):395-6. No abstract available.

PMID:
9266364

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