-
1
-
-
0002911516
-
Disorders of propionate and methylmalonate metabolism
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Fenton W.A., Gravel R.A., and Rosenblatt D.S. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. (2001), McGraw-Hill, New York 2165-2193
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. eighth ed.
, pp. 2165-2193
-
-
Fenton, W.A.1
Gravel, R.A.2
Rosenblatt, D.S.3
-
2
-
-
0020539836
-
The natural history of the inherited methylmalonic acidemias
-
Matsui S.M., Mahoney M.J., and Rosenberg L.E. The natural history of the inherited methylmalonic acidemias. N. Engl. J. Med. 308 (1983) 857-861
-
(1983)
N. Engl. J. Med.
, vol.308
, pp. 857-861
-
-
Matsui, S.M.1
Mahoney, M.J.2
Rosenberg, L.E.3
-
4
-
-
0028063308
-
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
-
Van der Meer S.B., Poggi F., Spada M., Bonnefont J.P., Ogier H., Hubert P., Depondt E., Rapoport D., Rabier D., and Charpentier C. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J. Pediatr. 125 (1994) 903-908
-
(1994)
J. Pediatr.
, vol.125
, pp. 903-908
-
-
Van der Meer, S.B.1
Poggi, F.2
Spada, M.3
Bonnefont, J.P.4
Ogier, H.5
Hubert, P.6
Depondt, E.7
Rapoport, D.8
Rabier, D.9
Charpentier, C.10
-
5
-
-
0029081213
-
The management and outcome of propionic and methylmalonic acidaemia
-
Leonard J.V. The management and outcome of propionic and methylmalonic acidaemia. J. Inherit. Metab. Dis. 18 (1995) 430-434
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 430-434
-
-
Leonard, J.V.1
-
6
-
-
0029035831
-
Long-term follow up of 77 patients with isolated methylmalonic acidaemia
-
Baumgartner E.R., and Viardot C. Long-term follow up of 77 patients with isolated methylmalonic acidaemia. J. Inherit. Metab. Dis. 18 (1995) 138-142
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 138-142
-
-
Baumgartner, E.R.1
Viardot, C.2
-
8
-
-
19444376924
-
Methylmalonic and propionic acidemias: management and outcome
-
Ogier de Baulny H., Benoist J.F., Rigal O., Touati G., Rabier D., and Saudubray J.M. Methylmalonic and propionic acidemias: management and outcome. J. Inherit. Metab. Dis. 28 (2005) 415-423
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 415-423
-
-
Ogier de Baulny, H.1
Benoist, J.F.2
Rigal, O.3
Touati, G.4
Rabier, D.5
Saudubray, J.M.6
-
9
-
-
29944442438
-
Spectrum of mutations in mut methylmalonic acidemia and identification of a common hispanic mutation and haplotype
-
Worgan L.C., Niles K., Tirone J.C., Hoffmann A., Vernier A., Sammak A., Kucic T., Lepage P., and Rosenblatt D.S. Spectrum of mutations in mut methylmalonic acidemia and identification of a common hispanic mutation and haplotype. Hum. Mutat. 27 (2006) 31-43
-
(2006)
Hum. Mutat.
, vol.27
, pp. 31-43
-
-
Worgan, L.C.1
Niles, K.2
Tirone, J.C.3
Hoffmann, A.4
Vernier, A.5
Sammak, A.6
Kucic, T.7
Lepage, P.8
Rosenblatt, D.S.9
-
10
-
-
0022550561
-
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia
-
Korf B., Wallman J.K., and Levy H.L. Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann. Neurol. 20 (1986) 364-366
-
(1986)
Ann. Neurol.
, vol.20
, pp. 364-366
-
-
Korf, B.1
Wallman, J.K.2
Levy, H.L.3
-
11
-
-
0024246645
-
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus
-
Heidenriech R., Natowicz M., Hainline B.E., Berman P., Kelley R.I., Hillman R.E., and Berry G.T. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J. Pediatr. 113 (1988) 1022-1027
-
(1988)
J. Pediatr.
, vol.113
, pp. 1022-1027
-
-
Heidenriech, R.1
Natowicz, M.2
Hainline, B.E.3
Berman, P.4
Kelley, R.I.5
Hillman, R.E.6
Berry, G.T.7
-
12
-
-
0022246448
-
Quantitation of methylmalonic acid and other dicarboxylic acids in normal serum and urine using capillary gas chromatography-mass spectrometry
-
Stabler S.P., Podell E.R., and Allen R.H. Quantitation of methylmalonic acid and other dicarboxylic acids in normal serum and urine using capillary gas chromatography-mass spectrometry. Anal. Biochem. 150 (1985) 58-66
-
(1985)
Anal. Biochem.
, vol.150
, pp. 58-66
-
-
Stabler, S.P.1
Podell, E.R.2
Allen, R.H.3
-
13
-
-
0025945945
-
Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency
-
Stabler S.P., Allen R.H., Barrett R.E., Savage D.G., and Lindenbaum J. Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency. Neurology 41 (1991) 1627-1632
-
(1991)
Neurology
, vol.41
, pp. 1627-1632
-
-
Stabler, S.P.1
Allen, R.H.2
Barrett, R.E.3
Savage, D.G.4
Lindenbaum, J.5
-
14
-
-
0027182884
-
Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency
-
Allen R.H., Stabler S.P., Savage D.G., and Lindenbaum J. Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism 42 (1993) 978-988
-
(1993)
Metabolism
, vol.42
, pp. 978-988
-
-
Allen, R.H.1
Stabler, S.P.2
Savage, D.G.3
Lindenbaum, J.4
-
15
-
-
0032731724
-
Liver transplantation in metabolic disorders: summary of the general discussion
-
Burdelski M., and Ullrich K. Liver transplantation in metabolic disorders: summary of the general discussion. Eur. J. Pediatr. 158 Suppl. 2 (1999) S95-S96
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
Burdelski, M.1
Ullrich, K.2
-
16
-
-
0034996399
-
Workshop Report. The management of organic acidaemias: the role of transplantation
-
Leonard J.V., Walter J.H., and McKiernan P.J. Workshop Report. The management of organic acidaemias: the role of transplantation. J. Inherit. Metab. Dis. 24 (2001) 309-311
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 309-311
-
-
Leonard, J.V.1
Walter, J.H.2
McKiernan, P.J.3
-
17
-
-
0031814736
-
Combined liver-kidney transplantation in methylmalonic acidemia
-
van't Hoff W.G., Dixon M., Taylor J., Mistry P., Rolles K., Rees L., and Leonard J.V. Combined liver-kidney transplantation in methylmalonic acidemia. J. Pediatr. 132 (1998) 1043-1044
-
(1998)
J. Pediatr.
, vol.132
, pp. 1043-1044
-
-
van't Hoff, W.G.1
Dixon, M.2
Taylor, J.3
Mistry, P.4
Rolles, K.5
Rees, L.6
Leonard, J.V.7
-
19
-
-
0034060729
-
Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia
-
Ho D., Harrison V., and Street N. Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia. Paediatr. Anaesth. 10 (2000) 215-218
-
(2000)
Paediatr. Anaesth.
, vol.10
, pp. 215-218
-
-
Ho, D.1
Harrison, V.2
Street, N.3
-
20
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
Nyhan W.L., Gargus J.J., Boyle K., Selby R., and Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur. J. Pediatr. 161 (2002) 377-379
-
(2002)
Eur. J. Pediatr.
, vol.161
, pp. 377-379
-
-
Nyhan, W.L.1
Gargus, J.J.2
Boyle, K.3
Selby, R.4
Koch, R.5
-
21
-
-
0041321158
-
Living-related liver transplantation for methylmalonic academia: report of one case
-
Hsui J.Y., Chien Y.H., Chu S.Y., Lu F.L., Chen H.L., Ho M.J., Lee P.H., and Hwu W.L. Living-related liver transplantation for methylmalonic academia: report of one case. Acta Paediatr. Taiwan 44 (2003) 171-173
-
(2003)
Acta Paediatr. Taiwan
, vol.44
, pp. 171-173
-
-
Hsui, J.Y.1
Chien, Y.H.2
Chu, S.Y.3
Lu, F.L.4
Chen, H.L.5
Ho, M.J.6
Lee, P.H.7
Hwu, W.L.8
-
22
-
-
0042830230
-
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria
-
Burlina A.P., Manara R., Calderone M., Catuogno S., and Burlina A.B. Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. J. Inherit. Metab. Dis. 26 (2003) 417-422
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 417-422
-
-
Burlina, A.P.1
Manara, R.2
Calderone, M.3
Catuogno, S.4
Burlina, A.B.5
-
23
-
-
0031751258
-
Renal transplantation in a patient with methylmalonic acidaemia
-
Van Calcar S.C., Harding C.O., Lyne P., Hogan K., Banerjee R., Sollinger H., Rieselbach R.E., and Wolff J.A. Renal transplantation in a patient with methylmalonic acidaemia. J. Inherit. Metab. 21 (1998) 729-737
-
(1998)
J. Inherit. Metab.
, vol.21
, pp. 729-737
-
-
Van Calcar, S.C.1
Harding, C.O.2
Lyne, P.3
Hogan, K.4
Banerjee, R.5
Sollinger, H.6
Rieselbach, R.E.7
Wolff, J.A.8
-
24
-
-
0034756760
-
Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
-
Lubrano R., Scoppi P., Barsotti P., Travasso E., Scateni S., Cristaldi S., and Castello M.A. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr. Nephrol. 16 (2001) 848-851
-
(2001)
Pediatr. Nephrol.
, vol.16
, pp. 848-851
-
-
Lubrano, R.1
Scoppi, P.2
Barsotti, P.3
Travasso, E.4
Scateni, S.5
Cristaldi, S.6
Castello, M.A.7
-
25
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
Chakrapani A., Sivakumar P., McKiernan P.J., and Leonard J.V. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J. Pediatr. 140 (2002) 261-263
-
(2002)
J. Pediatr.
, vol.140
, pp. 261-263
-
-
Chakrapani, A.1
Sivakumar, P.2
McKiernan, P.J.3
Leonard, J.V.4
-
26
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
Nagarajan S., Enns G.M., Millan M.T., Winter S., and Sarwal M.M. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J. Inherit. Metab. Dis. 28 (2005) 517-524
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 517-524
-
-
Nagarajan, S.1
Enns, G.M.2
Millan, M.T.3
Winter, S.4
Sarwal, M.M.5
-
27
-
-
0014144167
-
Methylmalonic aciduria: an inborn error of metabolism leading to chronic metabolic acidosis
-
Oberholzer V.G., Levin B., Burgess E.A., and Young W.F. Methylmalonic aciduria: an inborn error of metabolism leading to chronic metabolic acidosis. Arch. Dis. Child. 42 (1967) 492-504
-
(1967)
Arch. Dis. Child.
, vol.42
, pp. 492-504
-
-
Oberholzer, V.G.1
Levin, B.2
Burgess, E.A.3
Young, W.F.4
|