-
1
-
-
0031749452
-
Genetic defects of folate and cobalamin metabolism
-
B. Fowler Genetic defects of folate and cobalamin metabolism Eur J Pediatr 157 1998 S60 S66
-
(1998)
Eur J Pediatr
, vol.157
-
-
Fowler, B.1
-
2
-
-
0036557961
-
Practical management of combined MMA/homocystinuria (cblC)
-
D.L. Smith, and O.A. Bodamer Practical management of combined MMA/homocystinuria (cblC) J Child Neurol 17 2002 353 356
-
(2002)
J Child Neurol
, vol.17
, pp. 353-356
-
-
Smith, D.L.1
Bodamer, O.A.2
-
3
-
-
0035942363
-
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)
-
O.A. Bodamer, D.S. Rosenblatt, S.H. Appel, and A.L. Beaudet Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) Neurology 56 2001 1113 1118
-
(2001)
Neurology
, vol.56
, pp. 1113-1118
-
-
Bodamer, O.A.1
Rosenblatt, D.S.2
Appel, S.H.3
Beaudet, A.L.4
-
4
-
-
0033123412
-
Long-term outcome in treated combined methylmalonic acidemia and homocystinemia
-
H.C. Andersson, M. Marble, and E. Shapira Long-term outcome in treated combined methylmalonic acidemia and homocystinemia Genet Med 1 1999 146 150
-
(1999)
Genet Med
, vol.1
, pp. 146-150
-
-
Andersson, H.C.1
Marble, M.2
Shapira, E.3
-
5
-
-
0036280188
-
Early onset cobalamin C/D deficiency: Epilepsy and electroencephalographic features
-
R. Biancheri, R. Cerone, A. Rossi, M.C. Schiaffino, U. Caruso, and G. Minniti Early onset cobalamin C/D deficiency: epilepsy and electroencephalographic features Epilepsia 43 2002 616 622
-
(2002)
Epilepsia
, vol.43
, pp. 616-622
-
-
Biancheri, R.1
Cerone, R.2
Rossi, A.3
Schiaffino, M.C.4
Caruso, U.5
Minniti, G.6
-
6
-
-
0141889835
-
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease
-
E. Roze, D. Gervais, S. Demeret, H. Ogier de Baulny, J. Zittoun, and J.F. Benoist Neuropsychiatric disturbances in presumed late-onset cobalamin C disease Arch Neurol 60 2003 1457 1462
-
(2003)
Arch Neurol
, vol.60
, pp. 1457-1462
-
-
Roze, E.1
Gervais, D.2
Demeret, S.3
Ogier De Baulny, H.4
Zittoun, J.5
Benoist, J.F.6
-
7
-
-
0031031357
-
Methionine and serine formation in control and mutant human cultured fibroblasts: Evidence for methyl group trapping and characterisation of remethylation defects
-
B. Fowler, C. Whitehouse, F. Wenzel, and J.E. Wraith Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl group trapping and characterisation of remethylation defects Pediatr Res 41 1997 145 151
-
(1997)
Pediatr Res
, vol.41
, pp. 145-151
-
-
Fowler, B.1
Whitehouse, C.2
Wenzel, F.3
Wraith, J.E.4
-
8
-
-
0031780923
-
Post and prenatal diagnostic methods for the homocystinurias
-
Fowler B, Jakobs C. Post and prenatal diagnostic methods for the homocystinurias. Eur J Pediatr 1998;157:S88-93.
-
(1998)
Eur J Pediatr
, vol.157
-
-
Fowler, B.1
Jakobs, C.2
-
9
-
-
5644298359
-
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis
-
T. Suormala, M.R. Baumgartner, D. Coelho, P. Zavadakova, V. Kozich, and H.G. Koch The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis J Biol Chem 279 2004 42742 42749
-
(2004)
J Biol Chem
, vol.279
, pp. 42742-42749
-
-
Suormala, T.1
Baumgartner, M.R.2
Coelho, D.3
Zavadakova, P.4
Kozich, V.5
Koch, H.G.6
-
10
-
-
0028943707
-
Evaluation of prenatal treatment in newborns with cobalamin responsive methylmalonic acidemia
-
R. Zass, D. Leupold, M.A. Fernandez, and U. Wendel Evaluation of prenatal treatment in newborns with cobalamin responsive methylmalonic acidemia J Inherit Metab Dis 18 1995 100 101
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 100-101
-
-
Zass, R.1
Leupold, D.2
Fernandez, M.A.3
Wendel, U.4
-
11
-
-
0025681716
-
Prenatal treatment of a patient with vitamin B12 responsive methylmalonic acidemia
-
S.B. Van der Meer, L.J.M. Spaapen, B. Fowler, C. Jakobs, W.J. Kleijer, and U. Wendel Prenatal treatment of a patient with vitamin B12 responsive methylmalonic acidemia J Pediatr 117 1990 923 926
-
(1990)
J Pediatr
, vol.117
, pp. 923-926
-
-
Van Der Meer, S.B.1
Spaapen, L.J.M.2
Fowler, B.3
Jakobs, C.4
Kleijer, W.J.5
Wendel, U.6
-
12
-
-
0016818537
-
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia
-
M.G. Ampola, M.J. Mahoney, E. Nakamura, and K. Tanaka Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia N Engl J Med 293 1975 313 317
-
(1975)
N Engl J Med
, vol.293
, pp. 313-317
-
-
Ampola, M.G.1
Mahoney, M.J.2
Nakamura, E.3
Tanaka, K.4
-
13
-
-
26844534454
-
Fetal therapy in combined methylmalonic aciduria and homocystinuria
-
M. Spada, B. Fowler, G. Bonetti, G. Battistoni, S. Baglieri, and F. Perfetto Fetal therapy in combined methylmalonic aciduria and homocystinuria J Inherit Metab Dis 22 1999 91
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 91
-
-
Spada, M.1
Fowler, B.2
Bonetti, G.3
Battistoni, G.4
Baglieri, S.5
Perfetto, F.6
-
14
-
-
0029120859
-
Prenatal diagnosis and therapy for a patient with vitamin B12 responsive methylmalonic acidaemia
-
H. Soda, T. Ohura, I. Yoshida, S. Aramaki, K. Aoki, and T. Inokuchi Prenatal diagnosis and therapy for a patient with vitamin B12 responsive methylmalonic acidaemia J Inherit Metab Dis 18 1995 295 298
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 295-298
-
-
Soda, H.1
Ohura, T.2
Yoshida, I.3
Aramaki, S.4
Aoki, K.5
Inokuchi, T.6
-
15
-
-
0031953236
-
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC)
-
H.C. Andersson, and E. Shapira Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC) J Pediatr 132 1998 121 124
-
(1998)
J Pediatr
, vol.132
, pp. 121-124
-
-
Andersson, H.C.1
Shapira, E.2
-
16
-
-
0035195248
-
Methylation demand and homocysteine metabolism: Effects of dietary provision of creatine and guanidinoacetate
-
L.M. Stead, K.P. Au, R.L. Jacobs, M.E. Brosnan, and J.T. Brosnan Methylation demand and homocysteine metabolism: effects of dietary provision of creatine and guanidinoacetate Am J Physiol Endocrinol Metab 281 2001 E1095 E1100
-
(2001)
Am J Physiol Endocrinol Metab
, vol.281
-
-
Stead, L.M.1
Au, K.P.2
Jacobs, R.L.3
Brosnan, M.E.4
Brosnan, J.T.5
-
17
-
-
0037117657
-
Does oral folic acid lower total homocysteine levels and improve endothelial function in children with chronic renal failure?
-
K. Bennett-Richards, M. Kattenhorn, A. Donald, G. Oakley, Z. Varghese, and L. Rees Does oral folic acid lower total homocysteine levels and improve endothelial function in children with chronic renal failure? Circulation 105 2002 1810 1815
-
(2002)
Circulation
, vol.105
, pp. 1810-1815
-
-
Bennett-Richards, K.1
Kattenhorn, M.2
Donald, A.3
Oakley, G.4
Varghese, Z.5
Rees, L.6
-
18
-
-
4243238319
-
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy
-
J.L. Van Hove, R. Van Damme-Lombaerts, S. Grunewald, H. Peters, B. Van Damme, and J.P. Fryns Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy Am J Med Genet 111 2002 195 201
-
(2002)
Am J Med Genet
, vol.111
, pp. 195-201
-
-
Van Hove, J.L.1
Van Damme-Lombaerts, R.2
Grunewald, S.3
Peters, H.4
Van Damme, B.5
Fryns, J.P.6
-
19
-
-
0036947315
-
Cobalamin C deficiency complicated by an atypical glomerulopathy
-
S.M. Brunelli, K.E. Meyers, M. Guttenberg, P. Kaplan, and B.S. Kaplan Cobalamin C deficiency complicated by an atypical glomerulopathy Pediatr Nephrol 17 2002 800 803
-
(2002)
Pediatr Nephrol
, vol.17
, pp. 800-803
-
-
Brunelli, S.M.1
Meyers, K.E.2
Guttenberg, M.3
Kaplan, P.4
Kaplan, B.S.5
-
20
-
-
0037639877
-
Expanded newborn screening for inborn errors of metabolism by electrospray ionization tandem mass spectrometry: Results, outcome, and implications
-
A. Schulze, M. Lindner, D. Kohlmüller, K. Olgemöller, E. Mayatepek, and G.F. Hoffmann Expanded newborn screening for inborn errors of metabolism by electrospray ionization tandem mass spectrometry: results, outcome, and implications Pediatrics 111 2003 1399 1406
-
(2003)
Pediatrics
, vol.111
, pp. 1399-1406
-
-
Schulze, A.1
Lindner, M.2
Kohlmüller, D.3
Olgemöller, K.4
Mayatepek, E.5
Hoffmann, G.F.6
-
21
-
-
0034776654
-
Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns
-
D.H. Chace, J.C. DiPerna, T.A. Kalas, R.W. Johnson, and E.W. Naylor Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns Clin Chem 47 2001 2040 2044
-
(2001)
Clin Chem
, vol.47
, pp. 2040-2044
-
-
Chace, D.H.1
Diperna, J.C.2
Kalas, T.A.3
Johnson, R.W.4
Naylor, E.W.5
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