-
2
-
-
0028557903
-
CT and MR of the brain in the diagnosis of organic acidemias:experiences from 107 patients
-
Brismar J, Ozand PT (1994) CT and MR of the brain in the diagnosis of organic acidemias:experiences from 107 patients. Brain Dev [suppl] 16:104-124
-
(1994)
Brain Dev [Suppl]
, vol.16
, pp. 104-124
-
-
Brismar, J.1
Ozand, P.T.2
-
3
-
-
0027409118
-
Maple syrup urine disease:metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
-
Felber SR, Sperl W, Chemelli A, Murr C, Wendl U (1993) Maple syrup urine disease:metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann Neurol 33:396-401
-
(1993)
Ann Neurol
, vol.33
, pp. 396-401
-
-
Felber, S.R.1
Sperl, W.2
Chemelli, A.3
Murr, C.4
Wendl, U.5
-
4
-
-
0024260942
-
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Review of 18 reported patients
-
Gibson KM, Breuer J, Nyhan WL (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 148:180-186
-
(1988)
Eur J Pediatr
, vol.148
, pp. 180-186
-
-
Gibson, K.M.1
Breuer, J.2
Nyhan, W.L.3
-
5
-
-
0023930459
-
3-Hydroxy-3-methylglutaryl-coenzyme a (HMG-CoA) lyase deficiency: Report of five new patients
-
Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, Conde C, Bagnell P, Cole DEC (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency: report of five new patients. J Inherit Metab Dis 11:76-87
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 76-87
-
-
Gibson, K.M.1
Breuer, J.2
Kaiser, K.3
Nyhan, W.L.4
McCoy, E.E.5
Ferreira, P.6
Greene, C.L.7
Blitzer, M.G.8
Shapira, E.9
Reverte, F.10
Conde, C.11
Bagnell, P.12
Cole, D.E.C.13
-
6
-
-
0028122880
-
CT and MRI of 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency
-
Gordon K, Riding M, Camfield P, Bawden H, Ludman M, Bagnell P (1994) CT and MRI of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. AJNR 15:1474-1476
-
(1994)
AJNR
, vol.15
, pp. 1474-1476
-
-
Gordon, K.1
Riding, M.2
Camfield, P.3
Bawden, H.4
Ludman, M.5
Bagnell, P.6
-
7
-
-
0024246645
-
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus
-
Heidenreich R, Natowicz M, Hainline B, Berman P, Kelley RI, Hillman RE, Berry GT (1988) Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr 113:1022-1027
-
(1988)
J Pediatr
, vol.113
, pp. 1022-1027
-
-
Heidenreich, R.1
Natowicz, M.2
Hainline, B.3
Berman, P.4
Kelley, R.I.5
Hillman, R.E.6
Berry, G.T.7
-
8
-
-
0019483889
-
CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase
-
Lisson G, Leupold D, Bechinger D, Wallesch C (1981) CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase. Neuroradiology 22:99-101
-
(1981)
Neuroradiology
, vol.22
, pp. 99-101
-
-
Lisson, G.1
Leupold, D.2
Bechinger, D.3
Wallesch, C.4
-
9
-
-
0025852273
-
3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia
-
Ozand PT, Al Aqueel A, Gascon G, Brismar J, Thomas E, Gleispach H (1991) 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis 14:174-188
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 174-188
-
-
Ozand, P.T.1
Al Aqueel, A.2
Gascon, G.3
Brismar, J.4
Thomas, E.5
Gleispach, H.6
-
10
-
-
0030774847
-
Metabolic stroke in carbamyl phosphate synthetase deficiency
-
Sperl W, Felber S, Skladal D, Wermuth B (1997) Metabolic stroke in carbamyl phosphate synthetase deficiency. Neuropediatrics 28:229-234
-
(1997)
Neuropediatrics
, vol.28
, pp. 229-234
-
-
Sperl, W.1
Felber, S.2
Skladal, D.3
Wermuth, B.4
-
11
-
-
0002561443
-
Branched chain organic acidurias
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw Hill, New York
-
Sweetmann L, Williams JC (1995) Branched chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 7th edn. McGraw Hill, New York, pp 1387-1422
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Edn.
, pp. 1387-1422
-
-
Sweetmann, L.1
Williams, J.C.2
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