-
1
-
-
19444376924
-
Methylmalonic and propionic acidaemias: management and outcome
-
de Baulny H.O., et al. Methylmalonic and propionic acidaemias: management and outcome. J. Inherit. Metab. Dis. 28 3 (2005) 415-423
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, Issue.3
, pp. 415-423
-
-
de Baulny, H.O.1
-
2
-
-
0002911516
-
Disorders of propionate and methylmalonate metabolism
-
Scriver C.R., et al. (Ed), McGraw-Hill Professional, New York
-
Fenton W.A., Gravel R.A., and Rosenblatt D.S. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., et al. (Ed). The Metabolic and Molecular Bases of Inherited Disease (2000), McGraw-Hill Professional, New York
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Fenton, W.A.1
Gravel, R.A.2
Rosenblatt, D.S.3
-
3
-
-
0033123412
-
Long-term outcome in treated combined methylmalonic acidemia and homocystinemia
-
Andersson H.C., Marble M., and Shapira E. Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet. Med. 1 4 (1999) 146-150
-
(1999)
Genet. Med.
, vol.1
, Issue.4
, pp. 146-150
-
-
Andersson, H.C.1
Marble, M.2
Shapira, E.3
-
4
-
-
0026630572
-
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
-
Bellini C., et al. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. Eur. J. Pediatr. 151 11 (1992) 818-820
-
(1992)
Eur. J. Pediatr.
, vol.151
, Issue.11
, pp. 818-820
-
-
Bellini, C.1
-
5
-
-
11144236554
-
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
-
Hori D., et al. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev. 27 1 (2005) 39-45
-
(2005)
Brain Dev.
, vol.27
, Issue.1
, pp. 39-45
-
-
Hori, D.1
-
6
-
-
0021616787
-
The management and long term outcome of organic acidaemias
-
Leonard J.V., et al. The management and long term outcome of organic acidaemias. J. Inherit. Metab. Dis. 7 Suppl. 1 (1984) 13-17
-
(1984)
J. Inherit. Metab. Dis.
, vol.7
, Issue.SUPPL. 1
, pp. 13-17
-
-
Leonard, J.V.1
-
7
-
-
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 4 (1995) 430-434
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, Issue.4
, pp. 430-434
-
-
Leonard, J.V.1
-
8
-
-
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 15 (1983) 857-861
-
(1983)
N. Engl. J. Med.
, vol.308
, Issue.15
, pp. 857-861
-
-
Matsui, S.M.1
Mahoney, M.J.2
Rosenberg, L.E.3
-
9
-
-
0031777789
-
Neurological outcome of methylmalonic acidaemia
-
Nicolaides P., Leonard J., and Surtees R. Neurological outcome of methylmalonic acidaemia. Arch. Dis. Child. 78 6 (1998) 508-512
-
(1998)
Arch. Dis. Child.
, vol.78
, Issue.6
, pp. 508-512
-
-
Nicolaides, P.1
Leonard, J.2
Surtees, R.3
-
10
-
-
0030843127
-
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
-
Rosenblatt D.S., et al. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J. Inherit. Metab. Dis. 20 4 (1997) 528-538
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, Issue.4
, pp. 528-538
-
-
Rosenblatt, D.S.1
-
11
-
-
0021618197
-
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983)
-
Rousson R., and Guibaud P. Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). J. Inherit. Metab. Dis. 7 Suppl. 1 (1984) 10-12
-
(1984)
J. Inherit. Metab. Dis.
, vol.7
, Issue.SUPPL. 1
, pp. 10-12
-
-
Rousson, R.1
Guibaud, P.2
-
12
-
-
0033497184
-
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
-
Sniderman L.C., et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J. Pediatr. 134 6 (1999) 675-680
-
(1999)
J. Pediatr.
, vol.134
, Issue.6
, pp. 675-680
-
-
Sniderman, L.C.1
-
13
-
-
0028063308
-
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
-
van der Meer S.B., et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J. Pediatr. 125 6 Pt 1 (1994) 903-908
-
(1994)
J. Pediatr.
, vol.125
, Issue.6 PART 1
, pp. 903-908
-
-
van der Meer, S.B.1
-
14
-
-
0014144167
-
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis
-
Oberholzer V.G., et al. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch. Dis. Child. 42 225 (1967) 492-504
-
(1967)
Arch. Dis. Child.
, vol.42
, Issue.225
, pp. 492-504
-
-
Oberholzer, V.G.1
-
15
-
-
36849069797
-
-
E. Kirk, F. Collins, Kidney transplant in a methylmalonic aciduria patient, in: P. McGuire (Ed.), 2007.
-
-
-
-
16
-
-
0008615211
-
Liver transplantation for methylmalonyl-CoA mutase deficiency
-
Goyens P., et al. Liver transplantation for methylmalonyl-CoA mutase deficiency. J. Inherit. Metab. Dis. Suppl. 1 (1997) 38
-
(1997)
J. Inherit. Metab. Dis.
, Issue.SUPPL. 1
, pp. 38
-
-
Goyens, P.1
-
17
-
-
0031751258
-
Renal transplantation in a patient with methylmalonic acidaemia
-
Van Calcar S.C., et al. Renal transplantation in a patient with methylmalonic acidaemia. J. Inherit. Metab. Dis. 21 7 (1998) 729-737
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.7
, pp. 729-737
-
-
Van Calcar, S.C.1
-
18
-
-
0031814736
-
Combined liver-kidney transplantation in methylmalonic acidemia
-
van 't Hoff W.G., et al. Combined liver-kidney transplantation in methylmalonic acidemia. J. Pediatr. 132 6 (1998) 1043-1044
-
(1998)
J. Pediatr.
, vol.132
, Issue.6
, pp. 1043-1044
-
-
van 't Hoff, W.G.1
-
19
-
-
0032703649
-
Liver transplantation for methylmalonic acidaemia
-
van't Hoff W., et al. Liver transplantation for methylmalonic acidaemia. Eur. J. Pediatr. 158 Suppl. 2 (1999) S70-S74
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
van't Hoff, W.1
-
20
-
-
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 2 (2000) 215-218
-
(2000)
Paediatr. Anaesth.
, vol.10
, Issue.2
, pp. 215-218
-
-
Ho, D.1
Harrison, V.2
Street, N.3
-
21
-
-
0034756760
-
Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
-
Lubrano R., et al. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr. Nephrol. 16 11 (2001) 848-851
-
(2001)
Pediatr. Nephrol.
, vol.16
, Issue.11
, pp. 848-851
-
-
Lubrano, R.1
-
22
-
-
0034996399
-
The management of organic acidaemias: the role of transplantation
-
Leonard J.V., Walter J.H., and McKiernan P.J. The management of organic acidaemias: the role of transplantation. J. Inherit. Metab. Dis. 24 2 (2001) 309-311
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.2
, pp. 309-311
-
-
Leonard, J.V.1
Walter, J.H.2
McKiernan, P.J.3
-
23
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
Nyhan W.L., et al. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur. J. Pediatr. 161 7 (2002) 377-379
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.7
, pp. 377-379
-
-
Nyhan, W.L.1
-
24
-
-
18544363433
-
Long-term survival after liver transplantation in children with metabolic disorders
-
Kayler L.K., et al. Long-term survival after liver transplantation in children with metabolic disorders. Pediatr. Transplant. 6 4 (2002) 295-300
-
(2002)
Pediatr. Transplant.
, vol.6
, Issue.4
, pp. 295-300
-
-
Kayler, L.K.1
-
25
-
-
0041321158
-
Living-related liver transplantation for methylmalonic acidemia: report of one case
-
Hsui J.Y., et al. Living-related liver transplantation for methylmalonic acidemia: report of one case. Acta Paediatr. Taiwan 44 3 (2003) 171-173
-
(2003)
Acta Paediatr. Taiwan
, vol.44
, Issue.3
, pp. 171-173
-
-
Hsui, J.Y.1
-
26
-
-
33750594598
-
Effect of living donor liver transplantation for methylmalonic aciduria
-
Shinkai M., and Ohama Y. Effect of living donor liver transplantation for methylmalonic aciduria. Kanagawa Igaku Zasshi 30 (2003) 94
-
(2003)
Kanagawa Igaku Zasshi
, vol.30
, pp. 94
-
-
Shinkai, M.1
Ohama, Y.2
-
27
-
-
25444503514
-
Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors
-
Morioka D., et al. Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. Transplantation 80 5 (2005) 623-628
-
(2005)
Transplantation
, vol.80
, Issue.5
, pp. 623-628
-
-
Morioka, D.1
-
28
-
-
33644803431
-
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
-
Morioka D., et al. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am. J. Transplant. 5 11 (2005) 2754-2763
-
(2005)
Am. J. Transplant.
, vol.5
, Issue.11
, pp. 2754-2763
-
-
Morioka, D.1
-
29
-
-
33644648049
-
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
-
Huang H.P., et al. Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism. J. Formos. Med. Assoc. 104 9 (2005) 623-629
-
(2005)
J. Formos. Med. Assoc.
, vol.104
, Issue.9
, pp. 623-629
-
-
Huang, H.P.1
-
30
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
Nagarajan S., et al. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J. Inherit. Metab. Dis. 28 4 (2005) 517-524
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, Issue.4
, pp. 517-524
-
-
Nagarajan, S.1
-
31
-
-
33745713204
-
Anaesthesia for liver transplantation in two infants with an organic acidaemia
-
Manzoni D., et al. Anaesthesia for liver transplantation in two infants with an organic acidaemia. Pediatr. Transplant. 10 5 (2006) 623-628
-
(2006)
Pediatr. Transplant.
, vol.10
, Issue.5
, pp. 623-628
-
-
Manzoni, D.1
-
32
-
-
33746272227
-
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
-
Kaplan P., et al. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Mol. Genet. Metab. 88 4 (2006) 322-326
-
(2006)
Mol. Genet. Metab.
, vol.88
, Issue.4
, pp. 322-326
-
-
Kaplan, P.1
-
33
-
-
30944455972
-
Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
-
Coman D., et al. Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatr. Nephrol. 21 2 (2006) 270-273
-
(2006)
Pediatr. Nephrol.
, vol.21
, Issue.2
, pp. 270-273
-
-
Coman, D.1
-
34
-
-
33750600921
-
Current role of liver transplantation for methylmalonic acidemia: a review of the literature
-
Kasahara M., et al. Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr. Transplant. 10 8 (2006) 943-947
-
(2006)
Pediatr. Transplant.
, vol.10
, Issue.8
, pp. 943-947
-
-
Kasahara, M.1
-
35
-
-
34548461734
-
Renal transplant in methylmalonic acidemia: could it be the best option?: report on a case at 10 years and review of the literature
-
Lubrano R., et al. Renal transplant in methylmalonic acidemia: could it be the best option?: report on a case at 10 years and review of the literature. Pediatr. Nephrol. 22 (2007)
-
(2007)
Pediatr. Nephrol.
, vol.22
-
-
Lubrano, R.1
-
36
-
-
0034012465
-
Immunosuppressive-associated leukoencephalopathy in organ transplant recipients
-
Singh N., Bonham A., and Fukui M. Immunosuppressive-associated leukoencephalopathy in organ transplant recipients. Transplantation 69 4 (2000) 467-472
-
(2000)
Transplantation
, vol.69
, Issue.4
, pp. 467-472
-
-
Singh, N.1
Bonham, A.2
Fukui, M.3
-
37
-
-
0001822605
-
Transplantation for maple syrus urine disease (MSUD) and methylmalonic acidopathy (MMA)
-
Kaplan P., et al. Transplantation for maple syrus urine disease (MSUD) and methylmalonic acidopathy (MMA). J. Inherit. Metab. Dis. Suppl. 1 (1997) 37
-
(1997)
J. Inherit. Metab. Dis.
, Issue.SUPPL. 1
, pp. 37
-
-
Kaplan, P.1
-
38
-
-
0036211856
-
Pediatric liver transplantation in metabolic disease: clinical decision making
-
Shneider B.L. Pediatric liver transplantation in metabolic disease: clinical decision making. Pediatr. Transplant. 6 1 (2002) 25-29
-
(2002)
Pediatr. Transplant.
, vol.6
, Issue.1
, pp. 25-29
-
-
Shneider, B.L.1
|