-
1
-
-
5344249425
-
Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy
-
Acosta P., Yannicelli S., Singh R., Mofidi S., et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. Journal of the American Dietician Association 103 (2003) 1167-1173
-
(2003)
Journal of the American Dietician Association
, vol.103
, pp. 1167-1173
-
-
Acosta, P.1
Yannicelli, S.2
Singh, R.3
Mofidi, S.4
-
2
-
-
0031903540
-
Infectious compilations of propionic academia in Saudi Arabia
-
[Electronic version]
-
Al Essa M., Rahbeeni Z., Jumaah S., Al Jishi E., Rashed M., Al Almoudi M., et al. Infectious compilations of propionic academia in Saudi Arabia. [Electronic version]. Clinical Genetics 54 (1998) 90-94
-
(1998)
Clinical Genetics
, vol.54
, pp. 90-94
-
-
Al Essa, M.1
Rahbeeni, Z.2
Jumaah, S.3
Al Jishi, E.4
Rashed, M.5
Al Almoudi, M.6
-
3
-
-
33749539646
-
Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review
-
[Electronic version] 10.1111/j.1399-3046.2006.00569.x Retrieved July 20, 2006 from
-
Barshes N., Vanatta J., Patel A., Carter B., O'Mahony C., and Karpen S. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review. [Electronic version]. Pediatric Transplantation (2006). http://www.blackwell-synergy.com/doi/pdf/10.1111/j.1399-3046.2006.00569. x 10.1111/j.1399-3046.2006.00569.x Retrieved July 20, 2006 from
-
(2006)
Pediatric Transplantation
-
-
Barshes, N.1
Vanatta, J.2
Patel, A.3
Carter, B.4
O'Mahony, C.5
Karpen, S.6
-
4
-
-
43649085573
-
-
Retrieved June 7, 2006, from Up to Date Web site:
-
Bodamer O. Organic acidemias. Retrieved June 7, 2006, from Up to Date Web site: (2006). http://utdol.com/utd/content/topic.do?topicKey=dis_chld/2923&view=pr int
-
(2006)
Organic acidemias
-
-
Bodamer, O.1
-
5
-
-
0034776654
-
Rapid diagnosis of methylalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns
-
Chace D., DiPerna J., Kalas T., Johnson R., and Naylor E. Rapid diagnosis of methylalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clinical Chemistry 47 (2001) 2040-2044
-
(2001)
Clinical Chemistry
, vol.47
, pp. 2040-2044
-
-
Chace, D.1
DiPerna, J.2
Kalas, T.3
Johnson, R.4
Naylor, E.5
-
6
-
-
0019349864
-
Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria
-
Coulombe J., Shih V., and Levy H. Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria. Pediatrics 67 (1981) 26
-
(1981)
Pediatrics
, vol.67
, pp. 26
-
-
Coulombe, J.1
Shih, V.2
Levy, H.3
-
7
-
-
33745098400
-
Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
-
[Electronic version]
-
Dionisi-Vici C., Deodato F., Roschinger W., Rhead W., and Wilcken B. Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. [Electronic version]. Journal of Inherited Metabolic Diseases 29 (2005) 383-389
-
(2005)
Journal of Inherited Metabolic Diseases
, vol.29
, pp. 383-389
-
-
Dionisi-Vici, C.1
Deodato, F.2
Roschinger, W.3
Rhead, W.4
Wilcken, B.5
-
9
-
-
0028361559
-
Dependence of the utilization of a phenylalanine-free amino acid mixture on different amounts of single dose ingested. A case report
-
[Electronic version]
-
Herrmann M., Brosicke H., Keller M., Monch E., and Helge H. Dependence of the utilization of a phenylalanine-free amino acid mixture on different amounts of single dose ingested. A case report. [Electronic version]. European Journal of Pediatrics 153 (1994) 501-503
-
(1994)
European Journal of Pediatrics
, vol.153
, pp. 501-503
-
-
Herrmann, M.1
Brosicke, H.2
Keller, M.3
Monch, E.4
Helge, H.5
-
10
-
-
4844223887
-
Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges
-
[Published online 4 Aug, 2004]
-
Horster F., and Hoffmann G. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Journal of the International Pediatric Nephrology Association (2004) [Published online 4 Aug, 2004]
-
(2004)
Journal of the International Pediatric Nephrology Association
-
-
Horster, F.1
Hoffmann, G.2
-
11
-
-
0041930783
-
Optic nerve atrophy in propionic academia
-
[Electronic version]
-
Ianchulev T., Kollin T., Moseley K., and Sadun A. Optic nerve atrophy in propionic academia. [Electronic version]. Ophthalmology 110 (2003) 1850-1854
-
(2003)
Ophthalmology
, vol.110
, pp. 1850-1854
-
-
Ianchulev, T.1
Kollin, T.2
Moseley, K.3
Sadun, A.4
-
12
-
-
43649096104
-
Pancreatitis in patients with organic acidemia
-
Kahler S., Sherwood W., Woolf D., Lawless S., Zaritsky A., Bonham J., et al. Pancreatitis in patients with organic acidemia. Journal of Pediatrics 126 (1995) 852
-
(1995)
Journal of Pediatrics
, vol.126
, pp. 852
-
-
Kahler, S.1
Sherwood, W.2
Woolf, D.3
Lawless, S.4
Zaritsky, A.5
Bonham, J.6
-
13
-
-
0034996399
-
The management of organic acidaemias: The role of transplantation
-
[Electronic version]
-
Leonard J., Walter J., and McKiernan. The management of organic acidaemias: The role of transplantation. [Electronic version]. Journal of Inherited Metabolic Diseases 24 (2001) 309-311
-
(2001)
Journal of Inherited Metabolic Diseases
, vol.24
, pp. 309-311
-
-
Leonard, J.1
Walter, J.2
McKiernan3
-
14
-
-
23044475283
-
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
-
[Electronic version]
-
Mardach R., Verity M., and Cederbaum S. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. [Electronic version]. Molecular Genetics and Metabolism 85 (2005) 286-290
-
(2005)
Molecular Genetics and Metabolism
, vol.85
, pp. 286-290
-
-
Mardach, R.1
Verity, M.2
Cederbaum, S.3
-
15
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
[Electronic version]
-
Nagarajan S., Enns G., Millan M., Winter S., and Sarwal N. Management of methylmalonic acidaemia by combined liver-kidney transplantation. [Electronic version]. Journal of Inherited Metabolic Diseases 28 (2005) 517-524
-
(2005)
Journal of Inherited Metabolic Diseases
, vol.28
, pp. 517-524
-
-
Nagarajan, S.1
Enns, G.2
Millan, M.3
Winter, S.4
Sarwal, N.5
-
17
-
-
19444376924
-
Methylmalonic and propionic acidaemias: Management and outcome
-
[Electronic version]
-
Ogier de Baulny H., Benoist J., Rigal O., Touati G., Rabier D., and Saudubray J. Methylmalonic and propionic acidaemias: Management and outcome. [Electronic version]. Journal of Inherited Metabolic Diseases 28 (2005) 415-423
-
(2005)
Journal of Inherited Metabolic Diseases
, vol.28
, pp. 415-423
-
-
Ogier de Baulny, H.1
Benoist, J.2
Rigal, O.3
Touati, G.4
Rabier, D.5
Saudubray, J.6
-
18
-
-
43649086255
-
-
Organic Acidemia Association. (n.d.). Homepage. Retrieved January 21, 2008 from www.oaanews.org.
-
Organic Acidemia Association. (n.d.). Homepage. Retrieved January 21, 2008 from www.oaanews.org.
-
-
-
-
19
-
-
1842607446
-
The importance of gut motility in the metabolic control of propionic academia
-
[Electronic version]
-
Prasad C., Nurko S., Borovoy J., and Korson M. The importance of gut motility in the metabolic control of propionic academia. [Electronic version]. Journal of Pediatrics 144 (2004) 532-535
-
(2004)
Journal of Pediatrics
, vol.144
, pp. 532-535
-
-
Prasad, C.1
Nurko, S.2
Borovoy, J.3
Korson, M.4
-
20
-
-
43649091980
-
-
Propionic Acidemia Foundation. (n.d.). Homepage. Retrieved January 21, 2008 from www.pafoundation.com
-
Propionic Acidemia Foundation. (n.d.). Homepage. Retrieved January 21, 2008 from www.pafoundation.com
-
-
-
-
21
-
-
0033939624
-
High incidence of propionic acidemia in Greenland is due to a prevalent mutations, 1540insCCC, in the gene for the beta-subunit of propiony`l CoA carboxylase
-
[Electronic version]
-
Ravn K., Chloupkova M., Christensen E., Brandt N., Simonsen H., Draus J., et al. High incidence of propionic acidemia in Greenland is due to a prevalent mutations, 1540insCCC, in the gene for the beta-subunit of propiony`l CoA carboxylase. [Electronic version]. American Journal of Human Genetics 67 (2000) 203-206
-
(2000)
American Journal of Human Genetics
, vol.67
, pp. 203-206
-
-
Ravn, K.1
Chloupkova, M.2
Christensen, E.3
Brandt, N.4
Simonsen, H.5
Draus, J.6
-
22
-
-
10444223237
-
Propionic acidemia revisited: A workshop report
-
[Electronic version]
-
Sass J., Hofmann M., Skladal D., Mayatepak E., Schwahn B., and Sperl W. Propionic acidemia revisited: A workshop report. [Electronic version]. Clinical Pediatrics 43 (2004) 837-843
-
(2004)
Clinical Pediatrics
, vol.43
, pp. 837-843
-
-
Sass, J.1
Hofmann, M.2
Skladal, D.3
Mayatepak, E.4
Schwahn, B.5
Sperl, W.6
-
23
-
-
33745059650
-
Clinical approach to treatable inborn metabolic diseases: An introduction
-
[Electronic version]
-
Saudubray J., Sedel F., and Walter J. Clinical approach to treatable inborn metabolic diseases: An introduction. [Electronic version]. Journal of Inherited Metabolic Diseases 29 (2006) 261-274
-
(2006)
Journal of Inherited Metabolic Diseases
, vol.29
, pp. 261-274
-
-
Saudubray, J.1
Sedel, F.2
Walter, J.3
-
24
-
-
0028633591
-
Effect of dosage and timing of amino acid mixtures on nitrogen retention in patients with phenylketonuria
-
Schoeffer A., Herrmann M., Broesicke H., and Moench E. Effect of dosage and timing of amino acid mixtures on nitrogen retention in patients with phenylketonuria. J of Nutr Med 4 (1994) 415-418
-
(1994)
J of Nutr Med
, vol.4
, pp. 415-418
-
-
Schoeffer, A.1
Herrmann, M.2
Broesicke, H.3
Moench, E.4
-
26
-
-
0033497184
-
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
-
Sniderman L., Lambert M., Giguere R., Auray-Blais C., Lemieux B., and Laframboise R. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. Journal of Pediatrics 134 (1999) 675-680
-
(1999)
Journal of Pediatrics
, vol.134
, pp. 675-680
-
-
Sniderman, L.1
Lambert, M.2
Giguere, R.3
Auray-Blais, C.4
Lemieux, B.5
Laframboise, R.6
-
27
-
-
33745103138
-
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
-
[Electronic version]
-
Touati G., Valayannopoulos V., Mention K., de Lonlay P., Jouvet P., Depondt E., et al. Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture. [Electronic version]. Journal of Inherited Metabolic Diseases 29 (2006) 288-298
-
(2006)
Journal of Inherited Metabolic Diseases
, vol.29
, pp. 288-298
-
-
Touati, G.1
Valayannopoulos, V.2
Mention, K.3
de Lonlay, P.4
Jouvet, P.5
Depondt, E.6
-
28
-
-
0030406152
-
Glutathione deficiency as a complication of methylmalonic academia: Response to high doses of ascorbate [Electronic version]
-
Treacy E., Arbour L., Chessex P., et al. Glutathione deficiency as a complication of methylmalonic academia: Response to high doses of ascorbate [Electronic version]. Journal of Pediatrics 129 (1996) 445-448
-
(1996)
Journal of Pediatrics
, vol.129
, pp. 445-448
-
-
Treacy, E.1
Arbour, L.2
Chessex, P.3
-
29
-
-
84875320931
-
-
Retrieved June 11, 2006 from GeneReviews from
-
Venditti C. Methylmalonic acidemia. Retrieved June 11, 2006 from GeneReviews from (2005). www.genetests.org
-
(2005)
Methylmalonic acidemia
-
-
Venditti, C.1
-
30
-
-
33745091218
-
Nutrition therapy of organic acidemias with amino acid-based formulas: Emphasis on methylmalonic and propionic acidaemia
-
[Electronic version]
-
Yannicelli S. Nutrition therapy of organic acidemias with amino acid-based formulas: Emphasis on methylmalonic and propionic acidaemia. [Electronic version]. Journal of Inherited Metabolic Diseases 29 (2006) 281-287
-
(2006)
Journal of Inherited Metabolic Diseases
, vol.29
, pp. 281-287
-
-
Yannicelli, S.1
-
31
-
-
2942624153
-
Living-donor liver transplantation for propionic acidaemia
-
[Electronic version]
-
Yorifuji T., Kawai M., Mamada M., Kurokawa K., Egawa H., Shigematsu Y., et al. Living-donor liver transplantation for propionic acidaemia. [Electronic version]. Journal of Inherited Metabolic Diseases 27 (2004) 205-210
-
(2004)
Journal of Inherited Metabolic Diseases
, vol.27
, pp. 205-210
-
-
Yorifuji, T.1
Kawai, M.2
Mamada, M.3
Kurokawa, K.4
Egawa, H.5
Shigematsu, Y.6
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