-
1
-
-
33846082765
-
Newborn screening: Toward a uniform screening panel and system-executive summary
-
American College of Medical Genetics Newborn Screening Expert Group
-
American College of Medical Genetics Newborn Screening Expert Group (2006) Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 117:S296-S307
-
(2006)
Pediatrics
, vol.117
-
-
-
2
-
-
33846340459
-
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia
-
Baumgartner D, Scholl-Bürgi S, Sass JO et al (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150:192-197
-
(2007)
J Pediatr
, vol.150
, pp. 192-197
-
-
Baumgartner, D.1
Scholl-Bürgi, S.2
Sass, J.O.3
-
5
-
-
19444376924
-
Methylmalonic and propionic acidaemias: Management and outcome
-
de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D (2005) Saudubray JM (2005) Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28(3):415-423
-
(2005)
J Inherit Metab Dis
, vol.28
, Issue.3
, 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
-
6
-
-
33745098400
-
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
-
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B (2006) 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29:383-389
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 383-389
-
-
Dionisi-Vici, C.1
Deodato, F.2
Röschinger, W.3
Rhead, W.4
Wilcken, B.5
-
7
-
-
8844230268
-
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
-
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136-1142
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1136-1142
-
-
Ensenauer, R.1
Vockley, J.2
Willard, J.M.3
Huey, J.C.4
Sass, J.O.5
Edland, S.D.6
Burton, B.K.7
Berry, S.A.8
Santer, R.9
Grünert, S.10
Koch, H.G.11
Marquardt, I.12
Rinaldo, P.13
Hahn, S.14
Matern, D.15
-
8
-
-
0002911516
-
Disorders of propionate and methylmalonate metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds), McGraw-Hill, New York
-
Fenton WA, Gravel WA, Rosenblatt DS (2001) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Diseases. McGraw-Hill, New York, pp 2165-2193
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 2165-2193
-
-
Fenton, W.A.1
Gravel, W.A.2
Rosenblatt, D.S.3
-
10
-
-
33846452131
-
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
-
München Kölker S, Christensen E, Leonard JV et al (2007) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30:5-22
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 5-22
-
-
Münchenkölker, S.1
Christensen, E.2
Leonard, J.V.3
-
11
-
-
84863335136
-
Mutation analysis in 54 propionic acidemia patients
-
doi:10.1007/s10545-011-9399-0
-
Kraus JP, Spector E, Venezia S, Estes P, Chiang P-W, Creadon- Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner- Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO (2011) Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. doi:10.1007/s10545-011- 9399-0
-
(2011)
J Inherit Metab Dis.
-
-
Kraus, J.P.1
Spector, E.2
Venezia, S.3
Estes, P.4
Chiang, P.-W.5
Creadon- Swindell, G.6
Müllerleile, S.7
De Silva, L.8
Barth, M.9
Walter, M.10
Walter, K.11
Meissner, T.12
Lindner, M.13
Ensenauer, R.14
Santer, R.15
Bodamer, O.A.16
Baumgartner, M.R.17
Brunner- Krainz, M.18
Karall, D.19
Haase, C.20
Knerr, I.21
Marquardt, T.22
Hennermann, J.B.23
Steinfeld, R.24
Beblo, S.25
Koch, H.G.26
Konstantopoulou, V.27
Scholl-Bürgi, S.28
Van Teeffelen-Heithoff, A.29
Suormala, T.30
Ugarte, M.31
Sperl, W.32
Superti-Furga, A.33
Schwab, K.O.34
Grünert, S.C.35
Sass, J.O.36
more..
-
12
-
-
0028366123
-
Propionic acidaemia: Clinical, biochemical and therapeutic aspects. Experience in 30 patients
-
Lehnert W, Sperl W, Suormala T, Baumgartner ER (1994) Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153:68-80
-
(1994)
Eur J Pediatr
, vol.153
, pp. 68-80
-
-
Lehnert, W.1
Sperl, W.2
Suormala, T.3
Baumgartner, E.R.4
-
13
-
-
21144446866
-
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening
-
Nennstiel-Ratzel U, Arenz S, Maier E et al (2005) Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Mol Genet Metab 85:157-159
-
(2005)
Mol Genet Metab
, vol.85
, pp. 157-159
-
-
Nennstiel-Ratzel, U.1
Arenz, S.2
Maier, E.3
-
14
-
-
0029038863
-
Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management
-
North KN, Korson MS, Gopal YR (1995) Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr 126:916-922
-
(1995)
J Pediatr
, vol.126
, pp. 916-922
-
-
North, K.N.1
Korson, M.S.2
Gopal, Y.R.3
-
15
-
-
34547850865
-
Auxiliary liver transplantation for propionic acidemia: A 10-year follow-up
-
Rela M, Battula N, Madanur M (2007) Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up. Am J Transplant 7:2200-2203
-
(2007)
Am J Transplant
, vol.7
, pp. 2200-2203
-
-
Rela, M.1
Battula, N.2
Madanur, M.3
-
16
-
-
10444223237
-
Propionic acidemia revisited: A workshop report
-
Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W (2004) Propionic acidemia revisited: a workshop report. Clin Pediatr 43:837-843
-
(2004)
Clin Pediatr
, vol.43
, pp. 837-843
-
-
Sass, J.O.1
Hofmann, M.2
Skladal, D.3
Mayatepek, E.4
Schwahn, B.5
Sperl, W.6
-
19
-
-
33745103138
-
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
-
Touati G, Valayannopoulos V, Mention K (2006) Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis 29:288-298
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 288-298
-
-
Touati, G.1
Valayannopoulos, V.2
Mention, K.3
-
20
-
-
0030032008
-
Clinical outcome and long-term management of 17 patients with propionic acidaemia
-
van der Meer SB, Poggi F, Spada M et al (1996) Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur J Pediatr 155:205-210
-
(1996)
Eur J Pediatr
, vol.155
, pp. 205-210
-
-
Van Der Meer, S.B.1
Poggi, F.2
Spada, M.3
-
21
-
-
84873613964
-
Grundintelligenztest Skala 2 - Revision - (CFT 20- R). Göttingen, Hogrefe Verlag Wilcken B (2010) Fatty acid oxidation disorders: Outcome and longterm prognosis
-
Weiss RH (2006) Grundintelligenztest Skala 2 - Revision - (CFT 20- R). Göttingen, Hogrefe Verlag Wilcken B (2010) Fatty acid oxidation disorders: outcome and longterm prognosis. J Inherit Metab Dis 33:501-506
-
(2006)
J Inherit Metab Dis
, vol.33
, pp. 501-506
-
-
Weiss, R.H.1
-
22
-
-
33845897373
-
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
-
Wilcken B, Haas M, Joy P et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37-42
-
(2007)
Lancet
, vol.369
, pp. 37-42
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
-
23
-
-
0018307011
-
Asymptomatic propionyl-CoA carboxylase deficiency in a 13-year-old girl
-
Wolf B, Paulsen EP, Hsia YE (1979) Asymptomatic propionyl-CoA carboxylase deficiency in a 13-year-old girl. J Pediatr 95:563-565
-
(1979)
J Pediatr
, vol.95
, pp. 563-565
-
-
Wolf, B.1
Paulsen, E.P.2
Hsia, Y.E.3
-
24
-
-
0019778269
-
Propionic acidemia: a clinical update
-
Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL (1981) Propionic acidemia: a clinical update. J Pediatr 99:835-846
-
(1981)
J Pediatr
, vol.99
, pp. 835-846
-
-
Wolf, B.1
Hsia, Y.E.2
Sweetman, L.3
Gravel, R.4
Harris, D.J.5
Nyhan, W.L.6
-
25
-
-
2942624153
-
Living-donor liver transplantation for propionic acidaemia
-
Yorifuji T, Kawai M, Mamada M et al (2004) Living-donor liver transplantation for propionic acidaemia. J Inherit Metab Dis 27:205-210
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 205-210
-
-
Yorifuji, T.1
Kawai, M.2
Mamada, M.3
|