-
1
-
-
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. (1993). Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism 42, 978-988.
-
(1993)
Metabolism
, vol.42
, pp. 978-988
-
-
ALLEN, R.H.1
STABLER, S.P.2
SAVAGE, D.G.3
LINDENBAUM, J.4
-
2
-
-
0036405455
-
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
-
CHACE, D.H., KALAS, T.A., and NAYLOR, E.W. (2002). The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics Hum. Genet. 3, 17-45.
-
(2002)
Annu. Rev. Genomics Hum. Genet
, vol.3
, pp. 17-45
-
-
CHACE, D.H.1
KALAS, T.A.2
NAYLOR, E.W.3
-
3
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
CHAKRAPANI, A., SIVAKUMAR, P., MCKIERNAN, P.J., and LEONARD, J.V. (2002). Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J. Pediatr. 140, 261-263.
-
(2002)
J. Pediatr
, vol.140
, pp. 261-263
-
-
CHAKRAPANI, A.1
SIVAKUMAR, P.2
MCKIERNAN, P.J.3
LEONARD, J.V.4
-
4
-
-
26444531132
-
Genetic and genomic systems to study methylmalonic acidemia
-
CHANDLER, R.J., and VENDITTI, C.P. (2005). Genetic and genomic systems to study methylmalonic acidemia. Mol. Genet. Metab. 86, 34-43.
-
(2005)
Mol. Genet. Metab
, vol.86
, pp. 34-43
-
-
CHANDLER, R.J.1
VENDITTI, C.P.2
-
5
-
-
34249720462
-
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
-
CHANDLER, R.J., TSAI, M.S., DORKO, K., SLOAN, J., KORSON, M., FREEMAN, R., STROM, S., and VENDITTI, C.P. (2007). Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. BMC Med. Genet. 8, 24.
-
(2007)
BMC Med. Genet
, vol.8
, pp. 24
-
-
CHANDLER, R.J.1
TSAI, M.S.2
DORKO, K.3
SLOAN, J.4
KORSON, M.5
FREEMAN, R.6
STROM, S.7
VENDITTI, C.P.8
-
6
-
-
27344439351
-
Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA
-
CHEN, L., and WOO, S.L. (2005). Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA. Proc. Natl. Acad. Sci. U.S.A. 102, 15581-15586.
-
(2005)
Proc. Natl. Acad. Sci. U.S.A
, vol.102
, pp. 15581-15586
-
-
CHEN, L.1
WOO, S.L.2
-
7
-
-
0032736676
-
Adenoviral vectors for liver-directed gene therapy
-
CONNELLY, S. (1999). Adenoviral vectors for liver-directed gene therapy. Curr. Opin. Mol. Ther. 1, 565-572.
-
(1999)
Curr. Opin. Mol. Ther
, vol.1
, pp. 565-572
-
-
CONNELLY, S.1
-
8
-
-
0025318284
-
Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias
-
COUDE, M., CHADEFAUX, B., RABIER, D., and KAMOUN, P. (1990). Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias. Clin. Chim. Acta 187, 329-332.
-
(1990)
Clin. Chim. Acta
, vol.187
, pp. 329-332
-
-
COUDE, M.1
CHADEFAUX, B.2
RABIER, D.3
KAMOUN, P.4
-
9
-
-
19444376924
-
Methylmalonic and propionic acidaemias: Management and outcome
-
DE BAULNY, H.O., BENOIST, J.F., RIGAL, O., TOUATI, G., RABIER, D., and SAUDUBRAY, J.M. (2005). Methylmalonic and propionic acidaemias: Management and outcome. J. Inherit. Metab. Dis. 28, 415-423.
-
(2005)
J. Inherit. Metab. Dis
, vol.28
, pp. 415-423
-
-
DE BAULNY, H.O.1
BENOIST, J.F.2
RIGAL, O.3
TOUATI, G.4
RABIER, D.5
SAUDUBRAY, J.M.6
-
10
-
-
0001912321
-
Inherited disorders of folate and cobalamin transport and metabolism
-
Scriver, C.R, Sly, W.S, Valle, D, Childs, B, Kinzler, K.W, and Vogelstein, B, eds, McGraw-Hill, New York pp
-
FENTON, W.A., and ROSENBLATT, D.S. (2001). Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver, C.R., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B., eds. The Metabolic and Molecular Bases of Inherited Disease. (McGraw-Hill, New York) pp. 3897-3933.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3897-3933
-
-
FENTON, W.A.1
ROSENBLATT, D.S.2
-
11
-
-
0002911516
-
Disorders of propionate and methylmalonate metabolism
-
Scriver, C.R, Sly, W.S, Valle, D, Childs, B, Kinzler, K.W, and Vogelstein, B, eds, McGraw-Hill, New York pp
-
FENTON, W.A., GRAVEL, R.A., and ROSENBLATT, D.S. (2001). Disorders of propionate and methylmalonate metabolism. In: Scriver, C.R., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B., eds. The Metabolic and Molecular Bases of Inherited Disease. (McGraw-Hill, New York) pp. 2165-2192.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2165-2192
-
-
FENTON, W.A.1
GRAVEL, R.A.2
ROSENBLATT, D.S.3
-
13
-
-
0029834562
-
Evaluation of promoter strength for hepatic gene expression in vivo following adenovirus-mediated gene transfer
-
GUO, Z.S., WANG, L.H., EISENSMITH, R.C., and WOO, S.L. (1996). Evaluation of promoter strength for hepatic gene expression in vivo following adenovirus-mediated gene transfer. Gene Ther. 3, 802-810.
-
(1996)
Gene Ther
, vol.3
, pp. 802-810
-
-
GUO, Z.S.1
WANG, L.H.2
EISENSMITH, R.C.3
WOO, S.L.4
-
14
-
-
0041321158
-
Living-related liver transplantation for methylmalonic acidemia: 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. (2003). Living-related liver transplantation for methylmalonic acidemia: Report of one case. Acta Paediatr. Taiwan 44, 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
-
15
-
-
33746272227
-
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
-
KAPLAN, P., FICICIOGLU, C., MAZUR, A.T., PALMIERI, M.J., and BERRY, G.T. (2006). Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Mol. Genet. Metab. 88, 322-326.
-
(2006)
Mol. Genet. Metab
, vol.88
, pp. 322-326
-
-
KAPLAN, P.1
FICICIOGLU, C.2
MAZUR, A.T.3
PALMIERI, M.J.4
BERRY, G.T.5
-
16
-
-
33750600921
-
Current role of liver transplantation for methylmalonic acidemia: A review of the literature
-
KASAHARA, M., HORIKAWA, R., TAGAWA, M., UEMOTO, S., YOKOYAMA, S., SHIBATA, Y., KAWANO, T., KURODA, T., HONNA, T., TANAKA, K., and SAEKI, M. (2006). Current role of liver transplantation for methylmalonic acidemia: A review of the literature. Pediatr. Transplant. 10, 943-947.
-
(2006)
Pediatr. Transplant
, vol.10
, pp. 943-947
-
-
KASAHARA, M.1
HORIKAWA, R.2
TAGAWA, M.3
UEMOTO, S.4
YOKOYAMA, S.5
SHIBATA, Y.6
KAWANO, T.7
KURODA, T.8
HONNA, T.9
TANAKA, K.10
SAEKI, M.11
-
17
-
-
18544363433
-
Long-term survival after liver transplantation in children with metabolic disorders
-
KAYLER, L.K., MERION, R.M., LEE, S., SUNG, R.S., PUNCH, J.D., RUDICH, S.M., TURCOTTE, J.G., CAMPBELL, D.A., Jr., HOLMES, R., and MAGEE, J.C. (2002). Long-term survival after liver transplantation in children with metabolic disorders. Pediatr. Transplant. 6, 295-300.
-
(2002)
Pediatr. Transplant
, vol.6
, pp. 295-300
-
-
KAYLER, L.K.1
MERION, R.M.2
LEE, S.3
SUNG, R.S.4
PUNCH, J.D.5
RUDICH, S.M.6
TURCOTTE, J.G.7
CAMPBELL Jr., D.A.8
HOLMES, R.9
MAGEE, J.C.10
-
18
-
-
0022246448
-
Quantitation of methylmalonic acid and other dicarboxylic acids in normal serum and urine using capillary gas chromatography-mass spectrometry
-
MARCELL, P.D., STABLER, S.P., PODELL, E.R., and ALLEN, R.H. (1985). Quantitation of methylmalonic acid and other dicarboxylic acids in normal serum and urine using capillary gas chromatography-mass spectrometry. Anal. Biochem. 150, 58-66.
-
(1985)
Anal. Biochem
, vol.150
, pp. 58-66
-
-
MARCELL, P.D.1
STABLER, S.P.2
PODELL, E.R.3
ALLEN, R.H.4
-
19
-
-
0020539836
-
The natural history of the inherited methylmalonic acidemias
-
MATSUI, S.M., MAHONEY, M.J., and ROSENBERG, L.E. (1983). The natural history of the inherited methylmalonic acidemias. N. Engl. J. Med. 308, 857-861.
-
(1983)
N. Engl. J. Med
, vol.308
, pp. 857-861
-
-
MATSUI, S.M.1
MAHONEY, M.J.2
ROSENBERG, L.E.3
-
20
-
-
0035929630
-
Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene
-
MIYAZAKI, T., OHURA, T., KOBAYASHI, M., SHIGEMATSU, Y., YAMAGUCHI, S., SUZUKI, Y., HATA, I., AOKI, Y., YANG, X., MINJARES, C., HARUTA, I., UTO, H., ITO, Y., and MULLER, U. (2001). Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J. Biol. Chem. 276, 35995-35999.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 35995-35999
-
-
MIYAZAKI, T.1
OHURA, T.2
KOBAYASHI, M.3
SHIGEMATSU, Y.4
YAMAGUCHI, S.5
SUZUKI, Y.6
HATA, I.7
AOKI, Y.8
YANG, X.9
MINJARES, C.10
HARUTA, I.11
UTO, H.12
ITO, Y.13
MULLER, U.14
-
21
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
NAGARAJAN, S., ENNS, G.M., MILLAN, M.T., WINTER, S., and SARWAL, M.M. (2005). Management of methylmalonic acidaemia by combined liver-kidney transplantation. J. Inherit. Metab. Dis. 28, 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
-
22
-
-
27744501218
-
Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn rats
-
NGUYEN, T.H., BELLODI-PRIVATO, M., AUBERT, D., PICHARD, V., MYARA, A., TRONO, D., and FERRY, N. (2005). Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn rats. Mol. Ther. 12, 852-859.
-
(2005)
Mol. Ther
, vol.12
, pp. 852-859
-
-
NGUYEN, T.H.1
BELLODI-PRIVATO, M.2
AUBERT, D.3
PICHARD, V.4
MYARA, A.5
TRONO, D.6
FERRY, N.7
-
23
-
-
0031777789
-
Neurological outcome of methylmalonic acidaemia
-
NICOLAIDES, P., LEONARD, J., and SURTEES, R. (1998). Neurological outcome of methylmalonic acidaemia. Arch. Dis. Child. 78, 508-512.
-
(1998)
Arch. Dis. Child
, vol.78
, pp. 508-512
-
-
NICOLAIDES, P.1
LEONARD, J.2
SURTEES, R.3
-
24
-
-
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. (2002). Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur. J. Pediatr. 161, 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
-
25
-
-
0031927872
-
Evaluation of gene therapy for citrullinaemia using murine and bovine models
-
PATEJUNAS, G., LEE, B., DENNIS, J.A., HEALY, P.J., REEDS, P.J., YU, H., FRAZER, M., MULL, B., WARMAN, A.W., BEAUDET, A.L., and O'BRIEN, W.E. (1998). Evaluation of gene therapy for citrullinaemia using murine and bovine models. J. Inherit. Metab. Dis. 21(Suppl. 1), 138-150.
-
(1998)
J. Inherit. Metab. Dis
, vol.21
, Issue.SUPPL. 1
, pp. 138-150
-
-
PATEJUNAS, G.1
LEE, B.2
DENNIS, J.A.3
HEALY, P.J.4
REEDS, P.J.5
YU, H.6
FRAZER, M.7
MULL, B.8
WARMAN, A.W.9
BEAUDET, A.L.10
O'BRIEN, W.E.11
-
26
-
-
0347362790
-
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
-
PETERS, H., NEFEDOV, M., SARSERO, J., PITT, J., FOWLER, K.J., GAZEAS, S., KAHLER, S.G., and IOANNOU, P.A. (2003). A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J. Biol. Chem. 278, 52909-52913.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 52909-52913
-
-
PETERS, H.1
NEFEDOV, M.2
SARSERO, J.3
PITT, J.4
FOWLER, K.J.5
GAZEAS, S.6
KAHLER, S.G.7
IOANNOU, P.A.8
-
27
-
-
0036792035
-
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs
-
PONDER, K.P., MELNICZEK, J.R., XU, L., WEIL, M.A., O'MALLEY, T.M., O'DONNELL, P.A., KNOX, V.W., AGUIRRE, G.D., MAZRIER, H., ELLINWOOD, N.M., SLEEPER, M., MAGUIRE, A.M., VOLK, S.W., MANGO, R.L., ZWEIGLE, J., WOLFE, J.H., and HASKINS, M.E. (2002). Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. U.S.A. 99, 13102-13107.
-
(2002)
Proc. Natl. Acad. Sci. U.S.A
, vol.99
, pp. 13102-13107
-
-
PONDER, K.P.1
MELNICZEK, J.R.2
XU, L.3
WEIL, M.A.4
O'MALLEY, T.M.5
O'DONNELL, P.A.6
KNOX, V.W.7
AGUIRRE, G.D.8
MAZRIER, H.9
ELLINWOOD, N.M.10
SLEEPER, M.11
MAGUIRE, A.M.12
VOLK, S.W.13
MANGO, R.L.14
ZWEIGLE, J.15
WOLFE, J.H.16
HASKINS, M.E.17
-
28
-
-
0027461196
-
Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts
-
STANKOVICS, J., and LEDLEY, F.D. (1993). Cloning of functional alpha propionyl CoA 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
-
29
-
-
0025487393
-
Evaluation of the transfer and expression in mice of an enzyme-encoding gene using a human adenovirus vector
-
STRATFORD-PERRICAUDET, L.D., LEVRERO, M., CHASSE, J.F., PERRICAUDET, M., and BRIAND, P. (1990). Evaluation of the transfer and expression in mice of an enzyme-encoding gene using a human adenovirus vector. Hum. Gene Ther. 1, 241-256.
-
(1990)
Hum. Gene Ther
, vol.1
, pp. 241-256
-
-
STRATFORD-PERRICAUDET, L.D.1
LEVRERO, M.2
CHASSE, J.F.3
PERRICAUDET, M.4
BRIAND, P.5
-
30
-
-
0028063308
-
12-unresponsive methylmalonic acidemia
-
12-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
BONNEFONT, J.P.4
OGIER, H.5
HUBERT, P.6
DEPONDT, E.7
RAPOPORT, D.8
RABIER, D.9
CHARPENTIER, C.10
PARVY, P.11
BARDET, J.12
KAMOUN, P.13
SAUDUBRAY, J.M.14
-
31
-
-
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. (1998). Combined liver-kidney transplantation in methylmalonic acidemia. J. Pediatr. 132, 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
-
33
-
-
34249667171
-
Genetic and genomic systems to study methylmalonic acidemia (MMA)
-
VENDITTI, C.P., CHANDLER, R., TSAI, M.S., WEHRLI, N., DEERING, R., KAESTNER, K., GAIVER, G., and KAZAZIAN, H.H. (2005). Genetic and genomic systems to study methylmalonic acidemia (MMA). Mol. Genet. Metab. 84, 207-208.
-
(2005)
Mol. Genet. Metab
, vol.84
, pp. 207-208
-
-
VENDITTI, C.P.1
CHANDLER, R.2
TSAI, M.S.3
WEHRLI, N.4
DEERING, R.5
KAESTNER, K.6
GAIVER, G.7
KAZAZIAN, H.H.8
-
34
-
-
0027057917
-
Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: Implications for somatic gene therapy
-
WILKEMEYER, M., STANKOVICS, J., FOY, T., and LEDLEY, F.D. (1992). Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: Implications for somatic gene therapy. Somat. Cell Mol. Genet. 18, 493-505.
-
(1992)
Somat. Cell Mol. Genet
, vol.18
, pp. 493-505
-
-
WILKEMEYER, M.1
STANKOVICS, J.2
FOY, T.3
LEDLEY, F.D.4
-
35
-
-
0027755240
-
Genomic structure of murine methylmalonyl-CoA mutase: Evidence for genetic and epigenetic mechanisms determining enzyme activity
-
WILKEMEYER, M.F., ANDREWS, E.R., and LEDLEY, F.D. (1993). Genomic structure of murine methylmalonyl-CoA mutase: Evidence for genetic and epigenetic mechanisms determining enzyme activity. Biochem. J. 296, 663-670.
-
(1993)
Biochem. J
, vol.296
, pp. 663-670
-
-
WILKEMEYER, M.F.1
ANDREWS, E.R.2
LEDLEY, F.D.3
-
36
-
-
0030042794
-
Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors
-
YE, X., ROBINSON, M.B., BATSHAW, M.L., FURTH, E.E., SMITH, I., and WILSON, J.M. (1996). Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J. Biol. Chem. 271, 3639-3646.
-
(1996)
J. Biol. Chem
, vol.271
, pp. 3639-3646
-
-
YE, X.1
ROBINSON, M.B.2
BATSHAW, M.L.3
FURTH, E.E.4
SMITH, I.5
WILSON, J.M.6
-
37
-
-
0033768331
-
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA
-
YE, X., WHITEMAN, B., JEREBTSOVA, M., and BATSHAW, M.L. (2000). Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. Gene Ther. 7, 1777-1782.
-
(2000)
Gene Ther
, vol.7
, pp. 1777-1782
-
-
YE, X.1
WHITEMAN, B.2
JEREBTSOVA, M.3
BATSHAW, M.L.4
|