-
2
-
-
0022179060
-
Myoadenylate deaminase deficiency in children
-
Ashwal S, Peckham N. Myoadenylate deaminase deficiency in children. Pediatr Neurol 1985; 1: 185-91.
-
(1985)
Pediatr Neurol
, vol.1
, pp. 185-191
-
-
Ashwal, S.1
Peckham, N.2
-
3
-
-
0028834213
-
Muscle AMP deaminase deficiency in 2% of a healthy population
-
Norman B, Glenmark B, Jansson E. Muscle AMP deaminase deficiency in 2% of a healthy population. Muscle Nerve 1995; 18: 239-41.
-
(1995)
Muscle Nerve
, vol.18
, pp. 239-241
-
-
Norman, B.1
Glenmark, B.2
Jansson, E.3
-
4
-
-
0002815058
-
Myoadenylate deaminase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Sabina RL, Swan JL, Holmes EW. Myoadenylate deaminase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 7 ed. New York: McGraw-Hill; 1995. p. 1769-80.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease. 7 Ed.
, pp. 1769-1780
-
-
Sabina, R.L.1
Swan, J.L.2
Holmes, E.W.3
-
5
-
-
0026642190
-
Molecular basis of AMP deaminase deficiency in skeletal muscle
-
Morisaki T, Gross M, Morisaki H, Pongratz D, Zollinger N, Holmes EW. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci USA 1992; 89: 6457-61.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6457-6461
-
-
Morisaki, T.1
Gross, M.2
Morisaki, H.3
Pongratz, D.4
Zollinger, N.5
Holmes, E.W.6
-
6
-
-
0002609714
-
Histological and histochemical stains and reactions
-
Dubowitz V, ed. London: Baillieri-Tindall
-
Dubowitz V. Histological and histochemical stains and reactions. In Dubowitz V, ed. Muscle biopsy. London: Baillieri-Tindall; 1985. p. 19-40.
-
(1985)
Muscle Biopsy
, pp. 19-40
-
-
Dubowitz, V.1
-
7
-
-
0002815058
-
Myoadenylate deaminase deficiency
-
Rosenberg RN, Prusiner SB, DiMauro S, eds. Boston: Butterworth-Heinemann
-
Sabina RL. Myoadenylate deaminase deficiency. In Rosenberg RN, Prusiner SB, DiMauro S, eds. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann; 1993. p. 261.
-
(1993)
The Molecular and Genetic Basis of Neurological Disease
, pp. 261
-
-
Sabina, R.L.1
-
8
-
-
0022625320
-
The ischemic exercise test in normal adults and in patients with weakness and cramps
-
Coleman RA, Stajich CS, Pact VW, Pericak-Vance MA. The ischemic exercise test in normal adults and in patients with weakness and cramps. Muscle Nerve 1986; 9: 216-21.
-
(1986)
Muscle Nerve
, vol.9
, pp. 216-221
-
-
Coleman, R.A.1
Stajich, C.S.2
Pact, V.W.3
Pericak-Vance, M.A.4
-
9
-
-
0034048904
-
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation
-
Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin 2000; 18: 185-94.
-
(2000)
Neurol Clin
, vol.18
, pp. 185-194
-
-
Sabina, R.L.1
-
10
-
-
0015317149
-
Ammonia production in muscle and other tissues: The purine nucleotide cycle
-
Lowenstein JM. Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Rev 1972; 52: 382-14.
-
(1972)
Physiol Rev
, vol.52
, pp. 382-314
-
-
Lowenstein, J.M.1
-
11
-
-
0031694689
-
Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle
-
Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL. Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol 1998; 85: 1273-8.
-
(1998)
J Appl Physiol
, vol.85
, pp. 1273-1278
-
-
Norman, B.1
Mahnke-Zizelman, D.K.2
Vallis, A.3
Sabina, R.L.4
-
12
-
-
0033862332
-
Molecular analysis of Spanish patients with AMP deaminase deficiency
-
Rubio JC, Martín MA, Del Hoyo P, Bautista J, Campos Y, Segura D, et al. Molecular analysis of Spanish patients with AMP deaminase deficiency. Muscle Nerve 2000; 23: 1175-8.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1175-1178
-
-
Rubio, J.C.1
Martín, M.A.2
Del Hoyo, P.3
Bautista, J.4
Campos, Y.5
Segura, D.6
-
13
-
-
0034537169
-
First missense mutations (R288W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
-
Morisaki H, Higuchi I, Abe M, Osame M, Morisaki T. First missense mutations (R288W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat 2000; 16: 467-72.
-
(2000)
Hum Mutat
, vol.16
, pp. 467-472
-
-
Morisaki, H.1
Higuchi, I.2
Abe, M.3
Osame, M.4
Morisaki, T.5
-
14
-
-
0028834213
-
Muscle AMP deaminase deficiency in 2% of a healthy population
-
Norman B, Glenmark B, Jansson E. Muscle AMP deaminase deficiency in 2% of a healthy population. Muscle Nerve 1995; 18: 239-41.
-
(1995)
Muscle Nerve
, vol.18
, pp. 239-241
-
-
Norman, B.1
Glenmark, B.2
Jansson, E.3
-
15
-
-
0034048904
-
Myoadenylate deaminase deficiency
-
Sabina RL. Myoadenylate deaminase deficiency. Neurol Clin 2000; 18: 185-94.
-
(2000)
Neurol Clin
, vol.18
, pp. 185-194
-
-
Sabina, R.L.1
-
16
-
-
0015849502
-
Muscle adenylic acid deaminase activity: Selective decrease in early-onset Duchenne muscular dystrophy
-
Kar NC, Pearson CM. Muscle adenylic acid deaminase activity: selective decrease in early-onset Duchenne muscular dystrophy. Neurology 1973; 23: 478-82.
-
(1973)
Neurology
, vol.23
, pp. 478-482
-
-
Kar, N.C.1
Pearson, C.M.2
-
17
-
-
0021948917
-
Myoadenylate deaminase deficiency: Inherited and acquired forms
-
Fishbein WN. Myoadenylate deaminase deficiency: inherited and acquired forms. Biochem Med 1985; 33: 158-69.
-
(1985)
Biochem Med
, vol.33
, pp. 158-169
-
-
Fishbein, W.N.1
-
18
-
-
85046519305
-
Primary, secondary, and coincidental types of myoadenilate deaminase deficiency
-
Fishbein WN. Primary, secondary, and coincidental types of myoadenilate deaminase deficiency. Ann Neurol 1999; 45: 547-8.
-
(1999)
Ann Neurol
, vol.45
, pp. 547-548
-
-
Fishbein, W.N.1
-
19
-
-
0031926570
-
Genetic characteristics of myoadenylate deaminase deficiency
-
Verzijl HT, Van Engelen BG, Luyten JA, Steenbergen GC, Van Den Heuvel LP, Ter Laak HJ, et al. Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol 1998; 44: 140-3.
-
(1998)
Ann Neurol
, vol.44
, pp. 140-143
-
-
Verzijl, H.T.1
Van Engelen, B.G.2
Luyten, J.A.3
Steenbergen, G.C.4
Van Den Heuvel, L.P.5
Ter Laak, H.J.6
-
20
-
-
0038022783
-
Myotonia congenita and myoadenylate deaminase deficiency: Case report
-
Scola RH, Iwamoto FM, Camargo CH, Arruda WO, Werneck LC. Myotonia congenita and myoadenylate deaminase deficiency: case report. Arq Neuropsiquiatr 2003; 61: 262-4.
-
(2003)
Arq Neuropsiquiatr
, vol.61
, pp. 262-264
-
-
Scola, R.H.1
Iwamoto, F.M.2
Camargo, C.H.3
Arruda, W.O.4
Werneck, L.C.5
-
21
-
-
0030792783
-
Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: A second case of double trouble
-
Rubio JC, Martin MA, Bautista J, Campos Y, Segura D, Arenas J. Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: A second case of double trouble. Neuromuscul Disord 1997; 7: 387-9.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 387-389
-
-
Rubio, J.C.1
Martin, M.A.2
Bautista, J.3
Campos, Y.4
Segura, D.5
Arenas, J.6
-
22
-
-
0031906409
-
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
-
Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 1998; 50: 296-8.
-
(1998)
Neurology
, vol.50
, pp. 296-298
-
-
Bruno, C.1
Minetti, C.2
Shanske, S.3
Morreale, G.4
Bado, M.5
Cordone, G.6
-
23
-
-
0023938654
-
Mutant camitine palmitoyl-transferase associated with myoadenylate deaminase deficiency in skeletal muscle
-
Reuschenbach C, Zierz S. Mutant camitine palmitoyl-transferase associated with myoadenylate deaminase deficiency in skeletal muscle. J Pediatr 1988; 112: 600-3.
-
(1988)
J Pediatr
, vol.112
, pp. 600-603
-
-
Reuschenbach, C.1
Zierz, S.2
-
24
-
-
0022914737
-
Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose
-
Zollner N, Reiter S, Gross M, Pongratz D, Reimers CD, Gerbitz K, et al. Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose. Klin Wochenschr 1986; 64: 1281-90.
-
(1986)
Klin Wochenschr
, vol.64
, pp. 1281-1290
-
-
Zollner, N.1
Reiter, S.2
Gross, M.3
Pongratz, D.4
Reimers, C.D.5
Gerbitz, K.6
-
25
-
-
0027076339
-
Adaptation of rat skeletal muscle to creatine depletion: AMP deaminase and AMP deamination
-
Ren JM, Holloszy JO. Adaptation of rat skeletal muscle to creatine depletion: AMP deaminase and AMP deamination. J Appl Physiol 1992; 73: 2713-6.
-
(1992)
J Appl Physiol
, vol.73
, pp. 2713-2716
-
-
Ren, J.M.1
Holloszy, J.O.2
-
26
-
-
0027243799
-
Myoadenylate deaminase deficiency with severe rhabdomyolisis
-
Baumeister FAM, Gross M, Wagner DR, Pongratz D, Eife R. Myoadenylate deaminase deficiency with severe rhabdomyolisis. Eur J Pediatr 1993; 152: 513-5.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 513-515
-
-
Baumeister, F.A.M.1
Gross, M.2
Wagner, D.R.3
Pongratz, D.4
Eife, R.5
|