-
1
-
-
0028301597
-
Neurological manifestations of organic acid disorders
-
Hoffmann GF, Gibson KM, Trefz FK et al. (1994) Neurological manifestations of organic acid disorders. Eur J Pediatr 153 [Suppl 1]:S94-100
-
(1994)
Eur J Pediatr
, vol.153
, pp. S94-S100
-
-
Hoffmann, G.F.1
Gibson, K.M.2
Trefz, F.K.3
-
2
-
-
0020582805
-
The prognosis of hyperlysinemia: An interim report
-
Dancis J, Hutzler J, Ampola MG et al. (1983) The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 35:438-442
-
(1983)
Am J Hum Genet
, vol.35
, pp. 438-442
-
-
Dancis, J.1
Hutzler, J.2
Ampola, M.G.3
-
3
-
-
0033941102
-
Identification of the α-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
-
Sacksteder KA, Biery BJ, Morell JC et al. (2000) identification of the α-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet 66:1736-1743
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1736-1743
-
-
Sacksteder, K.A.1
Biery, B.J.2
Morell, J.C.3
-
4
-
-
84895265178
-
Disorders of ornithine, lysine and tryptophan
-
Blau N, Duran Blaskovics M, Gibson KM, Chapman & Hall, London
-
Przyrembel H (2002) Disorders of ornithine, lysine and tryptophan. In: Blau N, Duran Blaskovics M, Gibson KM (eds) Physician’s guide to the laboratory diagnosis of inherited metabolic disease. Chapman & Hall, London, pp 277-300
-
(2002)
Physician’s Guide to the Laboratory Diagnosis of Inherited Metabolic Disease
, pp. 277-300
-
-
Przyrembel, H.1
-
5
-
-
34249815224
-
Biomarkers identified in inborn errors of lysine, arginine and ornithine
-
Saudubray JM, Rabier D (2007) Biomarkers identified in inborn errors of lysine, arginine and ornithine. J Nutr 137:1669S-1672S
-
(2007)
J Nutr
, vol.137
, pp. 1669S-1672S
-
-
Saudubray, J.M.1
Rabier, D.2
-
6
-
-
0015380332
-
Hydroxylysinemia. A disorder due to a defect in the metabolism of free hydroxylysin
-
Goodman SI, Browder JA, Hiles RA, Miles BS (1972) Hydroxylysinemia. A disorder due to a defect in the metabolism of free hydroxylysin. Biochem Med 6:344-354
-
(1972)
Biochem Med
, vol.6
, pp. 344-354
-
-
Goodman, S.I.1
Browder, J.A.2
Hiles, R.A.3
Miles, B.S.4
-
7
-
-
0016432247
-
Alphaketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies
-
Przyrembel H, Bachmann D, Lombeck I et al. (1975) Alphaketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta 58:257-269
-
(1975)
Clin Chim Acta
, vol.58
, pp. 257-269
-
-
Przyrembel, H.1
Bachmann, D.2
Lombeck, I.3
-
8
-
-
2442646639
-
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
-
Kyllerman M, Skjeldal O, Christensen E et al. (2004) Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 8:121-129
-
(2004)
Eur J Paediatr Neurol
, vol.8
, pp. 121-129
-
-
Kyllerman, M.1
Skjeldal, O.2
Christensen, E.3
-
9
-
-
0042508736
-
Type I glutaric aciduria, part 1: Natural history of 77 patients
-
Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet 121C:38-52
-
(2003)
Am J Med Genet
, vol.121C
, pp. 38-52
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Robinson, D.L.3
Morton, D.H.4
-
10
-
-
33745106324
-
Natural history, outcome and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
-
Kolker S, Garbade SF, Greenberg CR et al. (2006) Natural history, outcome and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840-847
-
(2006)
Pediatr Res
, vol.59
, pp. 840-847
-
-
Kolker, S.1
Garbade, S.F.2
Greenberg, C.R.3
-
11
-
-
61449168119
-
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
-
Gitiaux C, Roze E, Kinugawa K et al. (2008) Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. Mov Disord 23:2392-2397
-
(2008)
Mov Disord
, vol.23
, pp. 2392-2397
-
-
Gitiaux, C.1
Roze, E.2
Kinugawa, K.3
-
12
-
-
67650087643
-
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
-
Harting I, Neumaier-Probst E, Seitz A et al. (2009) Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 132:1764-1782
-
(2009)
Brain
, vol.132
, pp. 1764-1782
-
-
Harting, I.1
Neumaier-Probst, E.2
Seitz, A.3
-
14
-
-
74249108469
-
Cerebral haemodynamics in patients with glutaryl-coenzmye A dehydrogenase deficiency
-
Strauss KA, Donelly P, Wintermark M (2010) Cerebral haemodynamics in patients with glutaryl-coenzmye A dehydrogenase deficiency. Brain 133:76-92
-
(2010)
Brain
, vol.133
, pp. 76-92
-
-
Strauss, K.A.1
Donelly, P.2
Wintermark, M.3
-
15
-
-
78249270079
-
Use of guidelines improves the outcome in glutaric aciduria type I
-
Heringer J, Boy SPN, Ensenauer R et al. (2010) Use of guidelines improves the outcome in glutaric aciduria type I. Ann Neurol 68:743-752
-
(2010)
Ann Neurol
, vol.68
, pp. 743-752
-
-
Heringer, J.1
Boy, S.2
Ensenauer, R.3
-
16
-
-
0347319252
-
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
-
Kolker S, Koeller DM, Okun JG, Hoffmann GF (2004) Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 55:7-12
-
(2004)
Ann Neurol
, vol.55
, pp. 7-12
-
-
Kolker, S.1
Koeller, D.M.2
Okun, J.G.3
Hoffmann, G.F.4
-
17
-
-
20444466104
-
Bioenergetics in glutaryl- coenzyme A dehydrogenase deficiency: A role for glutarylcoenzyme A
-
Sauer SW, Okun JG, Schwab MA et al. (2005) Bioenergetics in glutaryl- coenzyme A dehydrogenase deficiency: a role for glutarylcoenzyme A. J Biol Chem 280:2180-21836
-
(2005)
J Biol Chem
, vol.280
, pp. 2180-21836
-
-
Sauer, S.W.1
Okun, J.G.2
Schwab, M.A.3
-
18
-
-
33645881325
-
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitutes a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
-
Sauer SW, Okun JG, Fricker G et al. (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitutes a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97:899-910
-
(2006)
J Neurochem
, vol.97
, pp. 899-910
-
-
Sauer, S.W.1
Okun, J.G.2
Fricker, G.3
-
19
-
-
34447331984
-
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3
-
Stellmer F, Keyser B, Burckhardt BC et al. (2007) 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3. J Mol Med 85:763-770
-
(2007)
J Mol Med
, vol.85
, pp. 763-770
-
-
Stellmer, F.1
Keyser, B.2
Burckhardt, B.C.3
-
20
-
-
0031880503
-
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (Type I): Review and report of thirty novel mutations
-
Goodman SI, Stein DE, Schlesinger S et al. (1998) Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations. Hum Mutat 12:141-144
-
(1998)
Hum Mutat
, vol.12
, pp. 141-144
-
-
Goodman, S.I.1
Stein, D.E.2
Schlesinger, S.3
-
21
-
-
0032585736
-
Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I
-
Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22:867-882
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 867-882
-
-
Baric, I.1
Wagner, L.2
Feyh, P.3
Liesert, M.4
Buckel, W.5
Hoffmann, G.F.6
-
22
-
-
7244243913
-
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
-
Lindner M, Kolker S, Schulze A et al. (2004) Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27:851-859
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 851-859
-
-
Lindner, M.1
Kolker, S.2
Schulze, A.3
-
23
-
-
0027431219
-
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: Application in the genotyping of the glutaryl-CoA dehydrogenas locus
-
Christensen E (1993) A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenas locus. Clin Chim Acta 220:71-80
-
(1993)
Clin Chim Acta
, vol.220
, pp. 71-80
-
-
Christensen, E.1
-
24
-
-
33846452131
-
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (Glutaric aciduria type I)
-
Kolker S, Christensen E, Leonard JV et al. (2007) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30:5-22
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 5-22
-
-
Kolker, S.1
Christensen, E.2
Leonard, J.V.3
-
25
-
-
34548128809
-
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
-
Kolker S, Garbade SF, Boy N et al. (2007) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 62:357-363
-
(2007)
Pediatr Res
, vol.62
, pp. 357-363
-
-
Kolker, S.1
Garbade, S.F.2
Boy, N.3
-
26
-
-
34447619892
-
Multimodal imaging of striatal degeneration in Amish patients with glutaryl- CoA dehydrogenase deficiency
-
Strauss KA, Lazovic J, Wintermark M et al. (2007) Multimodal imaging of striatal degeneration in Amish patients with glutaryl- CoA dehydrogenase deficiency. Brain 130:1905-1920
-
(2007)
Brain
, vol.130
, pp. 1905-1920
-
-
Strauss, K.A.1
Lazovic, J.2
Wintermark, M.3
-
27
-
-
0034120821
-
Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management
-
Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Chil 82:67-70
-
(2000)
Arch Dis Chil
, vol.82
, pp. 67-70
-
-
Monavari, A.A.1
Naughten, E.R.2
-
29
-
-
55049116297
-
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in C7orf10
-
Sherman EA, Strauss KA, Tortorelli S et al. (2008) Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in C7orf10. Am J Hum Genet 83:604-609
-
(2008)
Am J Hum Genet
, vol.83
, pp. 604-609
-
-
Sherman, E.A.1
Strauss, K.A.2
Tortorelli, S.3
-
30
-
-
0027255269
-
L-2-Hydroxyglutaric acidemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
-
Barth PG, Hoffmann GF, Jaeken J et al. (1993) L-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 16:753-761
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 753-761
-
-
Barth, P.G.1
Hoffmann, G.F.2
Jaeken, J.3
-
31
-
-
0034166491
-
Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria
-
Moroni I, D’Incerti L, Farina L et al. (2000) Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 21:103-108
-
(2000)
Neurol Sci
, vol.21
, pp. 103-108
-
-
Moroni, I.1
D’Incerti, L.2
Farina, L.3
-
32
-
-
0029967374
-
L-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
-
Chen E, Nyhan WL, Jakobs C et al. (1996) L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 19:335-343
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 335-343
-
-
Chen, E.1
Nyhan, W.L.2
Jakobs, C.3
-
33
-
-
2442692808
-
L-2-Hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
-
Moroni I, Bugiani L, D’Incerti C et al. (2004) L-2-Hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? Neurology 62:1882-1884
-
(2004)
Neurology
, vol.62
, pp. 1882-1884
-
-
Moroni, I.1
Bugiani, L.2
D’Incerti, C.3
-
34
-
-
0029040708
-
Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria
-
Hoffmann GF, Jakobs C, Holmes B et al. (1995) Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 18:189-193
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 189-193
-
-
Hoffmann, G.F.1
Jakobs, C.2
Holmes, B.3
-
35
-
-
10044239247
-
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria
-
Rzem R, Veiga-da-Cunha M, Noel G et al. (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101:16849-16854
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 16849-16854
-
-
Rzem, R.1
Veiga-Da-Cunha, M.2
Noel, G.3
-
36
-
-
35248847850
-
L-2-Hydroxyglutaric aciduria, a defect of metabolite repair
-
Rzem R, Vincent MF, Schaftingen v E et al. (2007) L-2-Hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 30:681-689
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 681-689
-
-
Rzem, R.1
Vincent, M.F.2
Schaftingen V, E.3
-
37
-
-
9444299151
-
L-2-Hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localised on chromosome 14q22.1
-
Topcu M, Jobard F, Halliez S et al. (2004) L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localised on chromosome 14q22.1. Hum Mol Genet 13:2803-2811
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2803-2811
-
-
Topcu, M.1
Jobard, F.2
Halliez, S.3
-
38
-
-
0027279451
-
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
-
Gibson KM, Schor DSM, Kok RM et al. (1993) Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 34:277-280
-
(1993)
Pediatr Res
, vol.34
, pp. 277-280
-
-
Gibson, K.M.1
Schor, D.2
Kok, R.M.3
-
39
-
-
41349084192
-
A successfully treated adult patient with L-2-hydroxyglutaric aciduria
-
Samuraki M, Komai K, Hasegawa Y et al. (2008) A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 70:1051-1052
-
(2008)
Neurology
, vol.70
, pp. 1051-1052
-
-
Samuraki, M.1
Komai, K.2
Hasegawa, Y.3
-
40
-
-
0027266007
-
D-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?
-
Gibson KM, Craigen W, Herman GE, Jakobs C (1993) D-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis 16:497-500
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 497-500
-
-
Gibson, K.M.1
Craigen, W.2
Herman, G.E.3
Jakobs, C.4
-
41
-
-
0032957499
-
D-2-Hydroxyglutaric aciduria. Biochemical marker or clinical disease entity?
-
Knaap v d MS, Jakobs C, Hoffmann GF et al. (1999) D-2-Hydroxyglutaric aciduria. Biochemical marker or clinical disease entity? Ann Neurol 45:111-119
-
(1999)
Ann Neurol
, vol.45
, pp. 111-119
-
-
Knaap V D, M.S.1
Jakobs, C.2
Hoffmann, G.F.3
-
42
-
-
3142670397
-
Identification of a dehydrogenase acting on D-2-hydroxyglutarate
-
Achouri Y, Noel G, Vertommen D et al. (2004) Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J 381:35-42
-
(2004)
Biochem J
, vol.381
, pp. 35-42
-
-
Achouri, Y.1
Noel, G.2
Vertommen, D.3
-
43
-
-
12344330398
-
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
-
Struys EA, Salomons GS, Achouri Y et al. (2005) Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 76:358-360
-
(2005)
Am J Hum Genet
, vol.76
, pp. 358-360
-
-
Struys, E.A.1
Salomons, G.S.2
Achouri, Y.3
-
44
-
-
77957948775
-
IDH2 Mutations in patients with D-2-hydroxyglutaric aciduria
-
Kranendijk M, Struys EA, Schaftingen v E et al. (2010) IDH2 Mutations in patients with D-2-hydroxyglutaric aciduria. Science 330:336
-
(2010)
Science
, vol.330
, pp. 336
-
-
Kranendijk, M.1
Struys, E.A.2
Schaftingen V, E.3
-
45
-
-
72049125350
-
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
-
Dang L, White DW, Gross S et al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744
-
(2009)
Nature
, vol.462
, pp. 739-744
-
-
Dang, L.1
White, D.W.2
Gross, S.3
-
46
-
-
77649305610
-
The common feature of leukemia- associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting a-ketoglutarate to 2-hydroxyglutarate
-
Ward PS, Patel J, Wise DR et al. (2010) The common feature of leukemia- associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting a-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17:1-10
-
(2010)
Cancer Cell
, vol.17
, pp. 1-10
-
-
Ward, P.S.1
Patel, J.2
Wise, D.R.3
-
47
-
-
77149173436
-
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
-
Kranendijk M, Struys EA, Gibson KM et al. (2010) Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mut 31:279-283
-
(2010)
Hum Mut
, vol.31
, pp. 279-283
-
-
Kranendijk, M.1
Struys, E.A.2
Gibson, K.M.3
-
48
-
-
0343628796
-
Combined D-2 and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?
-
Muntau AC, Roschinger W, Merkenschlager A et al. (2000) Combined D-2 and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 31:137-140
-
(2000)
Neuropediatrics
, vol.31
, pp. 137-140
-
-
Muntau, A.C.1
Roschinger, W.2
Merkenschlager, A.3
-
49
-
-
0028842858
-
Canavan disease: From spongy degeneration to molecular analysis
-
Matalon R, Michals K, Kaul R (1995) Canavan disease: from spongy degeneration to molecular analysis. J Pediatr 127:511-517
-
(1995)
J Pediatr
, vol.127
, pp. 511-517
-
-
Matalon, R.1
Michals, K.2
Kaul, R.3
-
51
-
-
20144389547
-
Defective Nacetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease
-
Madhavarao CN, Arun P, Moffett JR et al. (2005) Defective Nacetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease. PNAS 102:5221-5226
-
(2005)
PNAS
, vol.102
, pp. 5221-5226
-
-
Madhavarao, C.N.1
Arun, P.2
Moffett, J.R.3
-
52
-
-
0036162622
-
Evidence supporting a role for N-acetyl-Laspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review
-
Baslow MH (2002) Evidence supporting a role for N-acetyl-Laspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem Int 40:295-300
-
(2002)
Neurochem Int
, vol.40
, pp. 295-300
-
-
Baslow, M.H.1
-
54
-
-
2942536398
-
Carrier screening for Canavan disease in Australia
-
Howell VM, Proos AL, LaRue D et al. (2004) Carrier screening for Canavan disease in Australia. J Inherit Metab Dis 27:289-290
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 289-290
-
-
Howell, V.M.1
Proos, A.L.2
Larue, D.3
-
55
-
-
0033059755
-
Prenatal diagnosis of Canavan disease: Problems and dilemmas
-
Besley GTN, Elpeleg ON, Shaag A et al. (1999) Prenatal diagnosis of Canavan disease: Problems and dilemmas. J Inherit Metab Dis 22:263-266
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 263-266
-
-
Besley, G.1
Elpeleg, O.N.2
Shaag, A.3
-
56
-
-
77953230252
-
Lithium citrate reduces excessive intracerebral N-acetylaspartate in Canavan disease
-
Assadi M, Janson C, Wan DJ et al. (2010) Lithium citrate reduces excessive intracerebral N-acetylaspartate in Canavan disease. Eur J Paediatr Neurol 14:354-359
-
(2010)
Eur J Paediatr Neurol
, vol.14
, pp. 354-359
-
-
Assadi, M.1
Janson, C.2
Wan, D.J.3
-
57
-
-
70350347765
-
Glyceryl triacetate for Cananvan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model
-
Madhavarao CN, Arun P, Anikster Y et al. (2009) Glyceryl triacetate for Cananvan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model. J Inherit Metab Dis 32:640-650
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 640-650
-
-
Madhavarao, C.N.1
Arun, P.2
Anikster, Y.3
-
58
-
-
0033917280
-
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease
-
Leone P, Janson CG, Bilanuk L et al. (2000) Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol 48:27-38
-
(2000)
Ann Neurol
, vol.48
, pp. 27-38
-
-
Leone, P.1
Janson, C.G.2
Bilanuk, L.3
-
59
-
-
18044384641
-
Effects of AAV-2- mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease
-
McPhee SW, Francis J, Janson CG et al. (2005) Effects of AAV-2- mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease. Brain Res Mol Brain Res 135:112-121
-
(2005)
Brain Res Mol Brain Res
, vol.135
, pp. 112-121
-
-
McPhee, S.W.1
Francis, J.2
Janson, C.G.3
-
61
-
-
72449146905
-
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia
-
Wiame E, Tyteca D, Pierrot N et al. (2010) Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J 425:127-136
-
(2010)
Biochem J
, vol.425
, pp. 127-136
-
-
Wiame, E.1
Tyteca, D.2
Pierrot, N.3
|