-
1
-
-
0043234809
-
L-2-hydroxyglutaric aciduria in Staffordshire Bull terriers
-
ABRAMSON CJ, PLATT SR, JAKOBS C, VERHOEVEN NM, DENNIS R, GAROSI L, SHELTON GD (2003): L-2-hydroxyglutaric aciduria in Staffordshire Bull terriers. J Vet Intern Med 17: 551-556.
-
(2003)
J Vet Intern Med
, vol.17
, pp. 551-556
-
-
ABRAMSON, C.J.1
PLATT, S.R.2
JAKOBS, C.3
VERHOEVEN, N.M.4
DENNIS, R.5
GAROSI, L.6
SHELTON, G.D.7
-
2
-
-
0026471610
-
Adult onset lysosomal storage disease in a Tibetan terrier: Clinical, morphological and biochemical studies
-
ALROY J, SCHELLING SH, THALHAMMER JG, RAGHAVAN SS, NATOWICZ MR, PRENCE EM, ORGAD U (1994): Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. Acta Neuropathol 84 (6): 658-663.
-
(1994)
Acta Neuropathol
, vol.84
, Issue.6
, pp. 658-663
-
-
ALROY, J.1
SCHELLING, S.H.2
THALHAMMER, J.G.3
RAGHAVAN, S.S.4
NATOWICZ, M.R.5
PRENCE, E.M.6
ORGAD, U.7
-
3
-
-
0037343066
-
Replacement therapy in mucopolysaccharidosis type VI: Advantages of early onset of therapy
-
AUCLAIR D, HOPWOOD JJ, BROOKS DA, LEMONTT JF, CRAWLEY AC (2003): Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab 78:163-174.
-
(2003)
Mol Genet Metab
, vol.78
, pp. 163-174
-
-
AUCLAIR, D.1
HOPWOOD, J.J.2
BROOKS, D.A.3
LEMONTT, J.F.4
CRAWLEY, A.C.5
-
4
-
-
0022556861
-
GM1 gangliosidosis (type 1) in a cat
-
BARKER CG, BLAKEMORE WF, DELL A, PALMER AC, TILLER PR, WINCHESTER BG (1986): GM1 gangliosidosis (type 1) in a cat. Biochem J 235:151-158.
-
(1986)
Biochem J
, vol.235
, pp. 151-158
-
-
BARKER, C.G.1
BLAKEMORE, W.F.2
DELL, A.3
PALMER, A.C.4
TILLER, P.R.5
WINCHESTER, B.G.6
-
5
-
-
0023825170
-
Primary hyperoxaluria and L-glyceric aciduria in the cat
-
BLAKEMORE WF, HEATH MF, BENNETT MJ, CROMBY CH, POLLITT RJ (1988): Primary hyperoxaluria and L-glyceric aciduria in the cat. J Inherit Metab Dis 11 (Suppl 2): 215-217.
-
(1988)
J Inherit Metab Dis
, vol.11
, Issue.SUPPL. 2
, pp. 215-217
-
-
BLAKEMORE, W.F.1
HEATH, M.F.2
BENNETT, M.J.3
CROMBY, C.H.4
POLLITT, R.J.5
-
6
-
-
0034082391
-
Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome)
-
BRENNER O, WAKSHLAG JJ, SUMMERS BA, DE LAHUNTA A (2000): Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome). Acta Neuropathol 100: 50-62.
-
(2000)
Acta Neuropathol
, vol.100
, pp. 50-62
-
-
BRENNER, O.1
WAKSHLAG, J.J.2
SUMMERS, B.A.3
DE LAHUNTA, A.4
-
8
-
-
0036837663
-
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
-
CHERQUI S, SEVIN C, HAMARD G, KALATZIS V, SICH M, PEQUIGNOT MO, GOGAT K, ABITBOL M, BROYER M, GUBLER MC, ANTIGNAC C (2002): Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22: 7622-7632.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 7622-7632
-
-
CHERQUI, S.1
SEVIN, C.2
HAMARD, G.3
KALATZIS, V.4
SICH, M.5
PEQUIGNOT, M.O.6
GOGAT, K.7
ABITBOL, M.8
BROYER, M.9
GUBLER, M.C.10
ANTIGNAC, C.11
-
9
-
-
0032138154
-
MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy
-
COZZI F, VITE CH, WENGER DA, VICTORIA T, HASKINS ME (1998): MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. J Small Anim Pract 39: 401-405.
-
(1998)
J Small Anim Pract
, vol.39
, pp. 401-405
-
-
COZZI, F.1
VITE, C.H.2
WENGER, D.A.3
VICTORIA, T.4
HASKINS, M.E.5
-
10
-
-
15844392149
-
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
-
CRAWLEY AC, BROOKS DA, MULLER VJ, PETERSEN BA, ISAAC EL, BIELICKI J, KING BM, BOULTER CD, MOORE AJ, FAZZALARI NL, ANSON DS, BYERS S, HOPWOOD JJ (1996): Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 97: 1864-1873.
-
(1996)
J Clin Invest
, vol.97
, pp. 1864-1873
-
-
CRAWLEY, A.C.1
BROOKS, D.A.2
MULLER, V.J.3
PETERSEN, B.A.4
ISAAC, E.L.5
BIELICKI, J.6
KING, B.M.7
BOULTER, C.D.8
MOORE, A.J.9
FAZZALARI, N.L.10
ANSON, D.S.11
BYERS, S.12
HOPWOOD, J.J.13
-
11
-
-
0031985352
-
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
-
CRAWLEY AC, YOGALINGAM G, MULLER VJ, HOPWOOD JJ (1998): Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest 101 (1): 109-119.
-
(1998)
J Clin Invest
, vol.101
, Issue.1
, pp. 109-119
-
-
CRAWLEY, A.C.1
YOGALINGAM, G.2
MULLER, V.J.3
HOPWOOD, J.J.4
-
13
-
-
4544254425
-
Gene therapy for lysosomal storage diseases: The lessons and promise of animal models
-
ELLINWOOD NM, VITE CH, HASKINS ME (2004): Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med 6: 481-506.
-
(2004)
J Gene Med
, vol.6
, pp. 481-506
-
-
ELLINWOOD, N.M.1
VITE, C.H.2
HASKINS, M.E.3
-
14
-
-
1642341366
-
Mitochondriopathies
-
FINSTERER J (2004): Mitochondriopathies. Eur J Neurol 11: 163-186.
-
(2004)
Eur J Neurol
, vol.11
, pp. 163-186
-
-
FINSTERER, J.1
-
15
-
-
10844268817
-
Stress lactate in mitochondrial myopathy under constant, unadjusted workload
-
FINSTERER J, MILVAY E (2004): Stress lactate in mitochondrial myopathy under constant, unadjusted workload. Eur J Neurol 11: 811-816.
-
(2004)
Eur J Neurol
, vol.11
, pp. 811-816
-
-
FINSTERER, J.1
MILVAY, E.2
-
16
-
-
13844319493
-
-
GAROSILS, PENDERIS J, McCONNELL JF, JAKOBS C (2005): L-2-Hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec 156: 145-147.
-
GAROSILS, PENDERIS J, McCONNELL JF, JAKOBS C (2005): L-2-Hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec 156: 145-147.
-
-
-
-
17
-
-
50749093820
-
The incidence of alkaptonuria. A study in clinical individuality
-
GARROD A (1902): The incidence of alkaptonuria. A study in clinical individuality. Lancet 1:1616-1620.
-
(1902)
Lancet
, vol.1
, pp. 1616-1620
-
-
GARROD, A.1
-
18
-
-
0002511069
-
Chronic progressive hepatitis in Bedlington terriers associated with elevated liver copper concentrations
-
HARDY RM, STEVENS JB, STOWE CM (1975): Chronic progressive hepatitis in Bedlington terriers associated with elevated liver copper concentrations. Minnesota Veterinarian 15:13-24.
-
(1975)
Minnesota Veterinarian
, vol.15
, pp. 13-24
-
-
HARDY, R.M.1
STEVENS, J.B.2
STOWE, C.M.3
-
19
-
-
0142062686
-
Animal models for mucopolysaccharidoses and their clinical relavance
-
HASKINS M, CASAL M, ELLINWOOD NM, MELNICZEK J, MAZRIER H, GIGER U (2002): Animal models for mucopolysaccharidoses and their clinical relavance. Acta Paediatr Suppl 439: 88-97.
-
(2002)
Acta Paediatr
, Issue.SUPPL. 439
, pp. 88-97
-
-
HASKINS, M.1
CASAL, M.2
ELLINWOOD, N.M.3
MELNICZEK, J.4
MAZRIER, H.5
GIGER, U.6
-
20
-
-
0017758232
-
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome
-
JEZYK PF, HASKINS ME, PATTERSON DF, MELLMAN WJ, GRENNSTEIN M (1977): Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science 198: 834.
-
(1977)
Science
, vol.198
, pp. 834
-
-
JEZYK, P.F.1
HASKINS, M.E.2
PATTERSON, D.F.3
MELLMAN, W.J.4
GRENNSTEIN, M.5
-
21
-
-
0002119724
-
Lafora's disease in an epileptic Basset hound
-
JIAN Z, ALLEY MR, CAYZER J, SWINNEY GR (1990): Lafora's disease in an epileptic Basset hound. N Z Vet J 38 (2): 75-79.
-
(1990)
N Z Vet J
, vol.38
, Issue.2
, pp. 75-79
-
-
JIAN, Z.1
ALLEY, M.R.2
CAYZER, J.3
SWINNEY, G.R.4
-
22
-
-
0026178844
-
Lafora-Erkrankung (progressive Myoklonusepilepsie) beim Bassethund - Möglichkeiten der Früherkennung mittels Muskelbiopsie? Vergleich der Einschlusskö rperchen in Hirn und Muskel, dargestellt an zwei ausgewerteten Fällen
-
KAISER E, KRAUSER K, SCHWARTZ-PORSCHE D (1991): Lafora-Erkrankung (progressive Myoklonusepilepsie) beim Bassethund - Möglichkeiten der Früherkennung mittels Muskelbiopsie? Vergleich der Einschlusskö rperchen in Hirn und Muskel, dargestellt an zwei ausgewerteten Fällen. Tierärztl Prax 19 (K): 290-295.
-
(1991)
Tierärztl Prax
, vol.19
, Issue.K
, pp. 290-295
-
-
KAISER, E.1
KRAUSER, K.2
SCHWARTZ-PORSCHE, D.3
-
23
-
-
34247599652
-
Clinicopathologic survey on Leigh Syndrome in Yorkshire Terriers
-
Philadelphia, USA
-
MATIASEK K, KOPP A, STIERSTORFER B, FISCHER A, SCHMAHL W (2002): Clinicopathologic survey on Leigh Syndrome in Yorkshire Terriers. In: ESVN/ECVN Proceedings of the 15th Annual Symposium, 2002; Philadelphia, USA.
-
(2002)
ESVN/ECVN Proceedings of the 15th Annual Symposium
-
-
MATIASEK, K.1
KOPP, A.2
STIERSTORFER, B.3
FISCHER, A.4
SCHMAHL, W.5
-
24
-
-
0035348817
-
GM1-gangliosidosis in Alaskan Huskies: Clinical and pathologic findings
-
MÜLLER G, ALLDINGER S, MORITZ A, ZURBRIGGEN A, KIRCHOF N, SEWELL A, BAUMGÄRTNER W (2001): GM1-gangliosidosis in Alaskan Huskies: clinical and pathologic findings. Vet Pathol 38: 281-290.
-
(2001)
Vet Pathol
, vol.38
, pp. 281-290
-
-
MÜLLER, G.1
ALLDINGER, S.2
MORITZ, A.3
ZURBRIGGEN, A.4
KIRCHOF, N.5
SEWELL, A.6
BAUMGÄRTNER, W.7
-
25
-
-
0028398035
-
Neurological manifestations of Niemann-Pick disease type C in cats
-
MUNANA KR, LUTTGEN PJ, THRALL MA, MTTCHELL TW, WENGER DA (1994):. Neurological manifestations of Niemann-Pick disease type C in cats. J Vet Intern Med 8 (2): 117-121.
-
(1994)
J Vet Intern Med
, vol.8
, Issue.2
, pp. 117-121
-
-
MUNANA, K.R.1
LUTTGEN, P.J.2
THRALL, M.A.3
MTTCHELL, T.W.4
WENGER, D.A.5
-
26
-
-
12644284502
-
Alpha-galactosidase deficient mice: A model of Fabry disease
-
OHSHIMA T, MURRAY GJ, SWAIM WD et al. (1997): Alpha-galactosidase deficient mice: a model of Fabry disease. Proc Natl Acad Sci USA 94: 2540-2544.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2540-2544
-
-
OHSHIMA, T.1
MURRAY, G.J.2
SWAIM, W.D.3
-
29
-
-
9044236158
-
Dramatically different phenotypes in mouse models of human Tay Sachs and Sandhoff diseases
-
PHANEUF D, WAKAMATSU N, HUANG JQ et al. (1996): Dramatically different phenotypes in mouse models of human Tay Sachs and Sandhoff diseases. Hum Mol Genet 5:1-14.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1-14
-
-
PHANEUF, D.1
WAKAMATSU, N.2
HUANG, J.Q.3
-
30
-
-
0029787433
-
Methylmalonic aciduria and malonic aciduria in a dog with progressive encephalomyelopathy
-
PODELL M, SHELTON GD, NYHAN WL, WAGNER SO, GENDERS A, OGLESBEE M, FENNER WR (1996): Methylmalonic aciduria and malonic aciduria in a dog with progressive encephalomyelopathy. Metab Brain Dis 11: 239-247.
-
(1996)
Metab Brain Dis
, vol.11
, pp. 239-247
-
-
PODELL, M.1
SHELTON, G.D.2
NYHAN, W.L.3
WAGNER, S.O.4
GENDERS, A.5
OGLESBEE, M.6
FENNER, W.R.7
-
31
-
-
18444411988
-
-
SALVADORI C, MODENATO M, CORLAZZOLIDS, ARISPICI M, CANTILE C (2005): Clinicopathological features of globoid cell leucodystrophy in cats. J Comp Path 132: 350-356.
-
SALVADORI C, MODENATO M, CORLAZZOLIDS, ARISPICI M, CANTILE C (2005): Clinicopathological features of globoid cell leucodystrophy in cats. J Comp Path 132: 350-356.
-
-
-
-
32
-
-
0036515932
-
Polyglucosan storage disease in a dog resembling Lafora's disease
-
SCHOEMAN T, WILLIAMS J, VAN WILPE E (2002): Polyglucosan storage disease in a dog resembling Lafora's disease. JVet Intern Med 16: 201-207.
-
(2002)
JVet Intern Med
, vol.16
, pp. 201-207
-
-
SCHOEMAN, T.1
WILLIAMS, J.2
VAN WILPE, E.3
-
34
-
-
1142274392
-
Mucopolysaccharidosis type VII in a German Shepherd dog
-
SILVERSTEIN-DOMBRWOSKI DC, CARMICHAEL KP, WANG P, O'MALLEY TM, HASKINS ME, GIGER U (2004): Mucopolysaccharidosis type VII in a German Shepherd dog. J Am Vet Med Assoc 224: 532-533.
-
(2004)
J Am Vet Med Assoc
, vol.224
, pp. 532-533
-
-
SILVERSTEIN-DOMBRWOSKI, D.C.1
CARMICHAEL, K.P.2
WANG, P.3
O'MALLEY, T.M.4
HASKINS, M.E.5
GIGER, U.6
-
35
-
-
0025468426
-
Clinical and pathological features of ceroid lipofuscinosis in two Australian cattle dogs
-
SISK DB, LEVESQUE DC, WOOD BA, STYER EL (1990): Clinical and pathological features of ceroid lipofuscinosis in two Australian cattle dogs. J Am Vet Med Assoc 197 (3): 361-364.
-
(1990)
J Am Vet Med Assoc
, vol.197
, Issue.3
, pp. 361-364
-
-
SISK, D.B.1
LEVESQUE, D.C.2
WOOD, B.A.3
STYER, E.L.4
-
36
-
-
7744231781
-
Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment
-
SISO S, NAVARRO C, HANZLICEK D, VANDEVELDE M (2004): Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol 108: 386-392.
-
(2004)
Acta Neuropathol
, vol.108
, pp. 386-392
-
-
SISO, S.1
NAVARRO, C.2
HANZLICEK, D.3
VANDEVELDE, M.4
-
37
-
-
0036512459
-
Recognition and diagnosis of lysosomal storage diseases in the cat and dog
-
SKELLY BJ, FRANKLIN RJM (2002): Recognition and diagnosis of lysosomal storage diseases in the cat and dog. J Vet Intern Med 16: 133-141.
-
(2002)
J Vet Intern Med
, vol.16
, pp. 133-141
-
-
SKELLY, B.J.1
FRANKLIN, R.J.M.2
-
38
-
-
0026476948
-
KlinischerVerdacht auf angeborene Stoffwechselstö rungen
-
SPERL W (1992): KlinischerVerdacht auf angeborene Stoffwechselstö rungen. Wien Klin Wochenschr 104: 497-502.
-
(1992)
Wien Klin Wochenschr
, vol.104
, pp. 497-502
-
-
SPERL, W.1
-
39
-
-
0019128173
-
Neuronal ceroid-lipofuscinosis in older dachshunds
-
VANDEVELDE M, FATZER R (1980): Neuronal ceroid-lipofuscinosis in older dachshunds. Vet Pathol 17 (6): 686-692.
-
(1980)
Vet Pathol
, vol.17
, Issue.6
, pp. 686-692
-
-
VANDEVELDE, M.1
FATZER, R.2
-
40
-
-
0024287306
-
Peripheral nerve biopsy for diagnosis of globoid cell leukodystrophy in a dog
-
VICINI DS, WHEATON LG, ZACHARY JF, PARKERS AJ (1988): Peripheral nerve biopsy for diagnosis of globoid cell leukodystrophy in a dog. J Vet Anim Med Assoc 192 (8): 1087-1090.
-
(1988)
J Vet Anim Med Assoc
, vol.192
, Issue.8
, pp. 1087-1090
-
-
VICINI, D.S.1
WHEATON, L.G.2
ZACHARY, J.F.3
PARKERS, A.J.4
-
41
-
-
0033252463
-
-
WAKSHLAG JJ, DE LAHUNTA A, ROBINSON T, COOPER BJ, BRENNER O, O'TOOLETD, OLSON J, BECKMAN KB, GLASS E, REYNOLDS AJ (1999): Subacute necrotising encephalopathy in an Alaskan husky. J Small Anim Prac 40: 585-589.
-
WAKSHLAG JJ, DE LAHUNTA A, ROBINSON T, COOPER BJ, BRENNER O, O'TOOLETD, OLSON J, BECKMAN KB, GLASS E, REYNOLDS AJ (1999): Subacute necrotising encephalopathy in an Alaskan husky. J Small Anim Prac 40: 585-589.
-
-
-
-
42
-
-
0034293714
-
GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry
-
WHITFIELD P, JOHNSON AW, DUNN KA, DELAUCHE AJN, WINCHESTER BG, FRANKLIN RJM (2000): GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathol 100: 409-414.
-
(2000)
Acta Neuropathol
, vol.100
, pp. 409-414
-
-
WHITFIELD, P.1
JOHNSON, A.W.2
DUNN, K.A.3
DELAUCHE, A.J.N.4
WINCHESTER, B.G.5
FRANKLIN, R.J.M.6
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