-
1
-
-
0015065031
-
Propionic acidemia in patients with ketotic hyperglycinemia
-
Ando T, Rasmusen K, Nyhan WL, Donnell GN, Barnes ND (1971) Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr 78: 827-832
-
(1971)
J Pediatr
, vol.78
, pp. 827-832
-
-
Ando, T.1
Rasmusen, K.2
Nyhan, W.L.3
Donnell, G.N.4
Barnes, N.D.5
-
3
-
-
0000582565
-
Idiopathic hyperglycinemia and hyperglycinuria, a new disorder of amino acid metabolism
-
Childs B, Nyhan WL, Borden MA, Bard L, Cooke RE (1961) Idiopathic hyperglycinemia and hyperglycinuria, a new disorder of amino acid metabolism. Pediatrics 27: 522-538
-
(1961)
Pediatrics
, vol.27
, pp. 522-538
-
-
Childs, B.1
Nyhan, W.L.2
Borden, M.A.3
Bard, L.4
Cooke, R.E.5
-
4
-
-
0025992887
-
Requirements and recommended dietary intakes of protein during infancy
-
Fomon SJ (1991) Requirements and recommended dietary intakes of protein during infancy. Pediatric Res 30: 391-395
-
(1991)
Pediatric Res
, vol.30
, pp. 391-395
-
-
Fomon, S.J.1
-
5
-
-
0014967882
-
Localisation of enzymic defect in propionic acidemia
-
Gompertz D, Storrs CN, Bau DC, Peters TJ, Hughes EA (1970) Localisation of enzymic defect in propionic acidemia. Lancet I: 1140-1143
-
(1970)
Lancet
, vol.1
, pp. 1140-1143
-
-
Gompertz, D.1
Storrs, C.N.2
Bau, D.C.3
Peters, T.J.4
Hughes, E.A.5
-
6
-
-
0014349198
-
Propionicacidemia, a new inborn error of metabolism
-
Hommes FA, Kuipers JRG, Elema JD, Jansen JF, Jonxis JHP (1968) Propionicacidemia, a new inborn error of metabolism. Pediatr Res 2: 519-524
-
(1968)
Pediatr Res
, vol.2
, pp. 519-524
-
-
Hommes, F.A.1
Kuipers, J.R.G.2
Elema, J.D.3
Jansen, J.F.4
Jonxis, J.H.P.5
-
7
-
-
0014672408
-
Defective propionate carboxylation in ketotic hyperglycinemia
-
Hsia YE, Scully KJ, Rosenberg LE (1969) Defective propionate carboxylation in ketotic hyperglycinemia. Lancet 1: 757-758
-
(1969)
Lancet
, vol.1
, pp. 757-758
-
-
Hsia, Y.E.1
Scully, K.J.2
Rosenberg, L.E.3
-
8
-
-
0014976416
-
Inherited propionyl-CoA carboxylase deficiency in "ketotic hyperglycinemia"
-
Hsia YE, Scully J, Rosenberg LE (1971) Inherited propionyl-CoA carboxylase deficiency in "ketotic hyperglycinemia". J Clin Invest 50: 127-130
-
(1971)
J Clin Invest
, vol.50
, pp. 127-130
-
-
Hsia, Y.E.1
Scully, J.2
Rosenberg, L.E.3
-
9
-
-
0028366123
-
Propionic acidemia: Clinical, biochemical and therapeutic aspects. Experience in 30 patients
-
Lehnert W, Sperl W, Suormala T, Baumgartner ER (1994) Propionic acidemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153 [Suppl 1): S68-S80
-
(1994)
Eur J Pediatr
, vol.153
, Issue.1 SUPPL.
-
-
Lehnert, W.1
Sperl, W.2
Suormala, T.3
Baumgartner, E.R.4
-
10
-
-
0027233542
-
Cardiomyopathy in propionic acidemia
-
Masoud AF, Leonard JV (1993) Cardiomyopathy in propionic acidemia. Eur J Pediatr 152: 441-445
-
(1993)
Eur J Pediatr
, vol.152
, pp. 441-445
-
-
Masoud, A.F.1
Leonard, J.V.2
-
12
-
-
0002228152
-
Organic acidemias
-
Fernandez J, Saudubray JM, Tada K (eds) Springer-Verlag, Berlin Heidelberg New York
-
Ogier H, Charpentier C, Saudubray JM (1990) Organic acidemias. In: Fernandez J, Saudubray JM, Tada K (eds) Inborn metabolic diseases, diagnosis and treatment. Springer-Verlag, Berlin Heidelberg New York, pp 271-301
-
(1990)
Inborn Metabolic Diseases, Diagnosis and Treatment
, pp. 271-301
-
-
Ogier, H.1
Charpentier, C.2
Saudubray, J.M.3
-
13
-
-
0021028824
-
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups
-
Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM Millington DS (1983) Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch Dis Child 58: 916-920
-
(1983)
Arch Dis Child
, vol.58
, pp. 916-920
-
-
Roe, C.R.1
Hoppel, C.L.2
Stacey, T.E.3
Chalmers, R.A.4
Tracey, B.M.5
Millington, D.S.6
-
14
-
-
85033756117
-
Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism
-
in press
-
Sbaï D, Narcy C, Thompson GN, Mariotti A, Poggi F, Saudubray JM, Bresson JL Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism. Am J Clin Nutr (in press)
-
Am J Clin Nutr
-
-
Sbaï, D.1
Narcy, C.2
Thompson, G.N.3
Mariotti, A.4
Poggi, F.5
Saudubray, J.M.6
Bresson, J.L.7
-
15
-
-
0027461196
-
Cloning of functional alpha propionyl carboxylase and correction of enzyme deficiency in pccA fibroblasts
-
Stankovics J, Ledley FD (1993) Cloning of functional alpha propionyl carboxylase and correction of enzyme deficiency in pccA fibroblasts. Am J Hum Genet 52: 144-151
-
(1993)
Am J Hum Genet
, vol.52
, pp. 144-151
-
-
Stankovics, J.1
Ledley, F.D.2
-
17
-
-
0018625148
-
Propionic acidemia presenting with pancytopenia in infancy
-
Sweetman L, Nyhan WL, Cravens J, Zomer JCY, Plunket DC (1979) Propionic acidemia presenting with pancytopenia in infancy. J Inherited Metab Dis 2: 65
-
(1979)
J Inherited Metab Dis
, vol.2
, pp. 65
-
-
Sweetman, L.1
Nyhan, W.L.2
Cravens, J.3
Zomer, J.C.Y.4
Plunket, D.C.5
-
18
-
-
0028063308
-
Clinical outcome of long-term management of 26 patients with vitamin B12-unresponsive methylmalonic acidemia
-
Van der Meer SB, Poggi F, Spada M, Saudubray JM, et al (1994) Clinical outcome of long-term management of 26 patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125: 903-908
-
(1994)
J Pediatr
, vol.125
, pp. 903-908
-
-
Van Der Meer, S.B.1
Poggi, F.2
Spada, M.3
Saudubray, J.M.4
-
19
-
-
0024413480
-
Contribution of aminoacid catabolism to propionate production in methylmalonic acidemia
-
Walter JH, Thompson GN, Leonard JV, Bartlett K, Halliday K (1989) Contribution of aminoacid catabolism to propionate production in methylmalonic acidemia. Lancet 1: 1298-1299
-
(1989)
Lancet
, vol.1
, pp. 1298-1299
-
-
Walter, J.H.1
Thompson, G.N.2
Leonard, J.V.3
Bartlett, K.4
Halliday, K.5
-
20
-
-
0024496058
-
Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism
-
Wendel U (1989) Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism. Pediatr Res 25: 147-150
-
(1989)
Pediatr Res
, vol.25
, pp. 147-150
-
-
Wendel, U.1
-
21
-
-
0019778269
-
Popionic acidemia: A clinical update
-
Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL (1981) Popionic acidemia: a clinical update. J Pediatr 99: 835-846
-
(1981)
J Pediatr
, vol.99
, pp. 835-846
-
-
Wolf, B.1
Hsia, Y.E.2
Sweetman, L.3
Gravel, R.4
Harris, D.J.5
Nyhan, W.L.6
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