-
1
-
-
0038051205
-
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia
-
DOI 10.1023/A:1024048118294
-
Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, Geraghty MT (2003) The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J Inherit Metab Dis 26:89-91 (Pubitemid 36817948)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.1
, pp. 89-91
-
-
Al-Hassnan, Z.N.1
Boyadijev, S.A.2
Praphanphoj, V.3
Hamosh, A.4
Braverman, N.E.5
Thomas, G.H.6
Geraghty, M.T.7
-
2
-
-
0034788469
-
Nonketotic hyperglycinemia (Glycine Encephalopathy): Laboratory diagnosis
-
DOI 10.1006/mgme.2001.3224
-
Applegarth DA, Toone JR (2001) Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Gen Metab 74:139-146 (Pubitemid 32955155)
-
(2001)
Molecular Genetics and Metabolism
, vol.74
, Issue.1-2
, pp. 139-146
-
-
Applegarth, D.A.1
Toone, J.R.2
-
3
-
-
33846340459
-
Prolonged QTc Intervals and decreased left ventricular contractility in patients with propionic acidemia
-
Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein J-I, Karall D (2007) Prolonged QTc Intervals and decreased left ventricular contractility in patients with propionic acidemia. J Ped 150:192-197
-
(2007)
J Ped
, vol.150
, pp. 192-197
-
-
Baumgartner, D.1
Scholl-Bürgi, S.2
Sass, J.O.3
Sperl, W.4
Schweigmann, U.5
Stein, J.-I.6
Karall, D.7
-
4
-
-
7344219820
-
Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome
-
DOI 10.1046/j.1365-2133.1998.02415.x
-
Bosch AM, Sillevis Smitt JH, van Gennip AH, Abeling NGGM, Schutgens RBH, Bakker HD, Wijburg FA (1998) Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome. Brit J Derm 139:488-491 (Pubitemid 28430468)
-
(1998)
British Journal of Dermatology
, vol.139
, Issue.3
, pp. 488-491
-
-
Bosch, A.M.1
Sillevis Smitt, J.H.2
Van Gennip, A.H.3
Abeling, N.G.G.M.4
Schutgens, R.B.H.5
Bakker, H.D.6
Wijburg, F.A.7
-
6
-
-
0034800302
-
Structure of the PCCA gene and distribution of mutations causing propionic acidemia
-
DOI 10.1006/mgme.2001.3210
-
Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M (2001) Structure of the PCCA gene and distribution of mutations causing propionic acidemia. Mol Genet Metab 74:238-247 (Pubitemid 32955164)
-
(2001)
Molecular Genetics and Metabolism
, vol.74
, Issue.1-2
, pp. 238-247
-
-
Campeau, E.1
Desviat, L.R.2
Leclerc, D.3
Wu, X.4
Perez, B.5
Ugarte, M.6
Gravel, R.A.7
-
7
-
-
0034776654
-
Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns
-
Chace DH, DiPerna JC, Kalas TA, Johnson RW, Naylor EW (2001) Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometry analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 11:2040-2044 (Pubitemid 33010725)
-
(2001)
Clinical Chemistry
, vol.47
, Issue.11
, pp. 2040-2044
-
-
Chace, D.H.1
DiPerna, J.C.2
Kalas, T.A.3
Johnson, R.W.4
Naylor, E.W.5
-
8
-
-
0000582565
-
Idiopathic hyperglycinemia and hyperglycinuria: A new disorder of amino acid metabolism
-
Childs B, Nyhan WL, Borden M, Bard L, Cooke RE (1961) Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. J Pediatrics 27:522-538
-
(1961)
J Pediatrics
, vol.27
, pp. 522-538
-
-
Childs, B.1
Nyhan, W.L.2
Borden, M.3
Bard, L.4
Cooke, R.E.5
-
9
-
-
0018595957
-
Inhibition by ropionylcoenzyme A of N-acetylglutamate synthetase in rat liver mitochondria
-
Coude FX, Sweetman L, Nyhan WL (1979) Inhibition by ropionylcoenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. J Clin Invest 64:1544-1551
-
(1979)
J Clin Invest
, vol.64
, pp. 1544-1551
-
-
Coude, F.X.1
Sweetman, L.2
Nyhan, W.L.3
-
10
-
-
0021337412
-
Propionylcarnitine excretion in propionic and methylmalonic acidurias: A cause of carnitine deficiency
-
DOI 10.1016/0009-8981(84)90187-6
-
Di Donato S, Rimoldi M, Garavaglia B, Uziel G (1984) Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 139:13-21 (Pubitemid 14145762)
-
(1984)
Clinica Chimica Acta
, vol.139
, Issue.1
, pp. 13-21
-
-
Di Donato, S.1
Rimoldi, M.2
Garavaglia, B.3
Uziel, G.4
-
11
-
-
0002911516
-
Disorders of propionate and methylmalonate metabolism
-
Scriver CR, Beaudet AL, Sly W, Valle D (eds), 8th edn McGraw-Hill, New York
-
Fenton WA, Gravel RA, Rosenberg DS (2001) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2165-2190
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2165-2190
-
-
Fenton, W.A.1
Gravel, R.A.2
Rosenberg, D.S.3
-
12
-
-
33646428923
-
Metabolic changes associated with hyperammonemia in patients with propionic acidemia
-
Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Gen Metab 88:123-130
-
(2006)
Mol Gen Metab
, vol.88
, pp. 123-130
-
-
Filipowicz, H.R.1
Ernst, S.L.2
Ashurst, C.L.3
Pasquali, M.4
Longo, N.5
-
13
-
-
19444367885
-
N-Carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia
-
DOI 10.1007/s10545-005-5260-7
-
Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Böhles H (2005) N-Carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 28:241-244 (Pubitemid 40723892)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.2
, pp. 241-244
-
-
Gebhardt, B.1
Dittrich, S.2
Parbel, S.3
Vlaho, S.4
Matsika, O.5
Bohles, H.6
-
14
-
-
0018294506
-
Studies on the effects of saturated and unsaturated short chain monocarboxylic acids on the metabolism of rat liver mitochondria
-
Gregersen N (1979) Studies on the effect of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of the rat liver mitochondria. Pediatr Res 13:1227-1230 (Pubitemid 9256287)
-
(1979)
Pediatric Research
, vol.13
, Issue.11
, pp. 1227-1230
-
-
Gregersen, N.1
-
15
-
-
77954783653
-
EEG-alterations in patients with propionic acidemia
-
Haberlandt E, Trinka E, Zimmerhackl LB, Baumgartner S, Konstantopoulou V, Scholl-Bürgi S, Felber S, Skladal D (2004) EEG-alterations in patients with propionic acidemia. Neuropediatrics 35:84
-
(2004)
Neuropediatrics
, vol.35
, pp. 84
-
-
Haberlandt, E.1
Trinka, E.2
Zimmerhackl, L.B.3
Baumgartner, S.4
Konstantopoulou, V.5
Scholl-Bürgi, S.6
Felber, S.7
Skladal, D.8
-
16
-
-
0020519357
-
Effects of the metabolites of the branched-chain amino acids and cysteamine on the glycine cleavage system
-
Hayasaka K, Tada K (1983) Effects of the metabolites of the branched-chain amino acids and cysteamine on the glycine cleavage system. Biochem Int 6:225-230 (Pubitemid 13114270)
-
(1983)
Biochemistry International
, vol.6
, Issue.2
, pp. 225-230
-
-
Hayasaka, K.1
Tada, K.2
-
17
-
-
0033959552
-
The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia
-
DOI 10.1023/A:1005659132147
-
Ierardi-Curto L, Kaplan P, Saitta S, Mazur A, Berry GT (2000) The glutamine paradox in a neonate with propionic academia and severe hyperammonemia. J Inherit Metab Dis 23:85-86 (Pubitemid 30071965)
-
(2000)
Journal of Inherited Metabolic Disease
, vol.23
, Issue.1
, pp. 85-86
-
-
Ierardi-Curto, L.1
Kaplan, P.2
Saitta, S.3
Mazur, A.4
Berry, G.T.5
-
18
-
-
0028366123
-
Propionic acidemia: Clinical, biochemical and therapeutic aspects. Experience in 30 patients
-
Lehnert W, Sperl W, Suormala T, Baumgartner ER (1994) Propionic acidemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153(Suppl 1):68-80
-
(1994)
Eur J Pediatr
, vol.153
, Issue.SUPPL. 1
, pp. 68-80
-
-
Lehnert, W.1
Sperl, W.2
Suormala, T.3
Baumgartner, E.R.4
-
19
-
-
0030873457
-
Stable isotope studies in propionic and methylmalonic acidemia
-
Leonard JV (1997) Stable isotope studies in propionic and methylmalonic acidemia. Eur J Pediatr 156(Suppl 1):67-69
-
(1997)
Eur J Pediatr
, vol.156
, Issue.SUPPL. 1
, pp. 67-69
-
-
Leonard, J.V.1
-
20
-
-
0031454302
-
Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population
-
Lepage N, McDonald N, Dallaire L, Lambert M (1997) Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population. Clin Chem 43:2397-2402 (Pubitemid 28022978)
-
(1997)
Clinical Chemistry
, vol.43
, Issue.12
, pp. 2397-2402
-
-
Lepage, N.1
Mcdonald, N.2
Dallaire, L.3
Lambert, M.4
-
21
-
-
0032611998
-
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253 Online
-
Muro S, Rodrńguez-Pombo P, Pérez B, Pérez- Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M (1999) Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online. Hum Mut 14:89-90
-
(1999)
Hum Mut
, vol.14
, pp. 89-90
-
-
Muro, S.1
Rodrńguez-Pombo, P.2
Pérez, B.3
Pérez- Cerdá, C.4
Desviat, L.R.5
Sperl, W.6
Skladal, D.7
Sass, J.O.8
Ugarte, M.9
-
22
-
-
0024094501
-
Pseudo-cystinurialysinuria in neonatal propionic acidemia
-
Parvy P, Bardet J, Rabier D, Kamoun P (1988) Pseudo-cystinurialysinuria in neonatal propionic acidemia. Clin Chem 34:2158
-
(1988)
Clin Chem
, vol.34
, pp. 2158
-
-
Parvy, P.1
Bardet, J.2
Rabier, D.3
Kamoun, P.4
-
23
-
-
0037288237
-
Propionic acidemia: Identification of twenty-four novel mutations in Europe and North America
-
DOI 10.1016/S1096-7192(02)00197-X, PII S109671920200197X
-
Pérez B, Desviat LR, Rodrńguez-Pombo P, Clavero S, Navarrete R, Pérez-Cerdá C, Ugarte M (2003) Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab 78:59-67 (Pubitemid 36277657)
-
(2003)
Molecular Genetics and Metabolism
, vol.78
, Issue.1
, pp. 59-67
-
-
Perez, B.1
Desviat, L.R.2
Rodriguez-Pombo, P.3
Clavero, S.4
Navarrete, R.5
Perez-Cerda, C.6
Ugarte, M.7
-
24
-
-
0020083939
-
Stimulation of ketogenesis by propionate in isolated rat hepatocytes: An explanation for ketosis associated with propionic acidaemia and methylmalonic acidaemia?
-
DOI 10.1007/BF01799756
-
Rosario P, Medina JM (1982) Stimulation of ketogenesis by propionate in isolated rat hepatocytes: an explanation of ketosis associated with propionic acidemia and methylmalonic acidemia? J Inherit Metab Dis 5:59-62 (Pubitemid 12145322)
-
(1982)
Journal of Inherited Metabolic Disease
, vol.5
, Issue.1
, pp. 59-62
-
-
Rosario, P.1
Medina, J.M.2
-
25
-
-
10444223237
-
Propionic acidemia revisited: A workshop report
-
DOI 10.1177/000992280404300908
-
Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W (2004) Propionic acidemia revisited: a workshop report. Clin Pediatr 43:837-843 (Pubitemid 39636230)
-
(2004)
Clinical Pediatrics
, vol.43
, Issue.9
, pp. 837-843
-
-
Sass, J.O.1
Hofmann, M.2
Skladal, D.3
Mayatepek, E.4
Schwahn, B.5
Sperl, W.6
-
26
-
-
33745095912
-
Dietary therapy in propionic acidemia: Recommended versus real protein supply
-
Scholl-Bürgi S, Grissenauer G, Fendl A, Baumgartner S, Konstantopoulou V, Skladal D (2004) Dietary therapy in propionic acidemia: recommended versus real protein supply. J Inherit Metab Dis 27(Suppl 1):43
-
(2004)
J Inherit Metab Dis
, vol.27
, Issue.SUPPL. 1
, pp. 43
-
-
Scholl-Bürgi, S.1
Grissenauer, G.2
Fendl, A.3
Baumgartner, S.4
Konstantopoulou, V.5
Skladal, D.6
-
27
-
-
42949109280
-
Amino acid cerebrospinal fluid/plasma ratios in children: Influence of age, gender, and antiepileptic medication
-
Scholl-Bürgi S, Haberlandt E, Heinz-Erian P, Deisenhammer F, Albrecht U, Baumgartner Sigl S, Rauchenzauner M, Ulmer H, Karall D (2008a) Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medication. Pediatrics 121(4):e920-e926
-
(2008)
Pediatrics
, vol.121
, Issue.4
-
-
Scholl-Bürgi, S.1
Haberlandt, E.2
Heinz-Erian, P.3
Deisenhammer, F.4
Albrecht, U.5
Baumgartner Sigl, S.6
Rauchenzauner, M.7
Ulmer, H.8
Karall, D.9
-
28
-
-
45849107549
-
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'
-
Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO (2008b) The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'. J Inherit Metab Dis 31:395-398
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 395-398
-
-
Scholl-Bürgi, S.1
Korman, S.H.2
Applegarth, D.A.3
Karall, D.4
Lillquist, Y.5
Heinz-Erian, P.6
Davidson, A.G.7
Haberlandt, E.8
Sass, J.O.9
-
29
-
-
34248327595
-
Mitochondrial energy metabolism
-
Blau N, Duran M, Blaskovics ME, Gibson KM (eds), 2nd edn Springer, Berlin
-
Smeitink J, van den Heuvel B, Trijbels F, Ruitenbeek W, Sengers R (2003) Mitochondrial energy metabolism. In: Blau N, Duran M, Blaskovics ME, Gibson KM (eds) Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd edn. Springer, Berlin, pp 519-536
-
(2003)
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
, pp. 519-536
-
-
Smeitink, J.1
Van Den Heuvel, B.2
Trijbels, F.3
Ruitenbeek, W.4
Sengers, R.5
-
30
-
-
0345465900
-
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
-
DOI 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N
-
Ugarte M, Pérez-Cerdá C, Rodrńguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA (1999) Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 14:275-282 (Pubitemid 29480310)
-
(1999)
Human Mutation
, vol.14
, Issue.4
, pp. 275-282
-
-
Ugarte, M.1
Perez-Cerda, C.2
Rodriguez-Pombo, P.3
Desviat, L.R.4
Perez, B.5
Richard, E.6
Muro, S.7
Campeau, E.8
Ohura, T.9
Gravel, R.A.10
-
31
-
-
0019778269
-
Propionic acidemia: A clinical update
-
Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, NyhanWL(1981) Propionic acidemia: a clinical update. J Pediatr 99:835-846 (Pubitemid 12240102)
-
(1981)
Journal of Pediatrics
, vol.99
, Issue.6
, pp. 835-846
-
-
Wolf, B.1
Hsia, E.2
Sweetman, L.3
|