Detalhe da pesquisa
1.
THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO).
J Zoo Wildl Med
; 49(2): 335-344, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29900785
2.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26025547
3.
Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency.
J Am Anim Hosp Assoc
; 49(3): 197-203, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23535754
4.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
Biochim Biophys Acta
; 1802(7-8): 639-48, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20362666
5.
An inherited episodic head tremor syndrome in Doberman pinscher dogs.
Mov Disord
; 26(13): 2381-6, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21915908
6.
L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria.
Genes (Basel)
; 12(5)2021 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34062805
7.
Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex.
Biochim Biophys Acta
; 1792(10): 982-7, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19607915
8.
Jürgen Herwig.
J Inherit Metab Dis
; 38(4): 775, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25917790
9.
Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).
Genes (Basel)
; 11(7)2020 07 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32660061
10.
[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. / Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie.
Tierarztl Prax Ausg K Kleintiere Heimtiere
; 47(6): 402-410, 2019 Dec.
Artigo
Alemão
| MEDLINE | ID: mdl-31814088
11.
A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.
G3 (Bethesda)
; 8(5): 1545-1554, 2018 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29491033
12.
Paediatric age-dependent serum transferrin isoform distribution studied by HPLC.
Clin Lab
; 53(9-12): 575-82, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-18257464
13.
Inherited metabolic disease in companion animals: searching for nature's mistakes.
Vet J
; 174(2): 252-9, 2007 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-17085062
14.
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay.
Clin Chim Acta
; 373(1-2): 117-20, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16808909
15.
Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier.
J Am Anim Hosp Assoc
; 51(4): 285-8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26083440
16.
Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome.
J Chromatogr B Analyt Technol Biomed Life Sci
; 792(2): 269-77, 2003 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-12860034
17.
Multidimensional gas chromatography-mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells.
J Chromatogr B Analyt Technol Biomed Life Sci
; 791(1-2): 235-44, 2003 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-12798183
18.
Interference of an algal nutritional supplement with a urinary metabolic screening test for glycosaminoglycans in a dog suspected to have a storage disease.
Vet Clin Pathol
; 42(4): 504-7, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24320782
19.
Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.
Vet Clin Pathol
; 41(4): 548-57, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23121383
20.
Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds.
Am J Vet Res
; 73(8): 1194-9, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22849680