-
1
-
-
75349092696
-
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
-
PID: 20002125
-
Barnerias C, Saudubray JM, Touati G et al (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52(2):e1–e9
-
(2010)
Dev Med Child Neurol
, vol.52
, Issue.2
, pp. e1-e9
-
-
Barnerias, C.1
Saudubray, J.M.2
Touati, G.3
-
2
-
-
0017161313
-
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency
-
COI: 1:STN:280:DyaE283ktlOktg%3D%3D, PID: 821033
-
Cederbaum SD, Blass JP, Minkoff N, Brown WJ, Cotton ME, Harris SH (1976) Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res 10(8):713–720
-
(1976)
Pediatr Res
, vol.10
, Issue.8
, pp. 713-720
-
-
Cederbaum, S.D.1
Blass, J.P.2
Minkoff, N.3
Brown, W.J.4
Cotton, M.E.5
Harris, S.H.6
-
3
-
-
84867900559
-
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype
-
COI: 1:CAS:528:DC%2BC38XhsValsLnJ, PID: 23021068
-
DeBrosse SD, Okajima K, Zhang S et al (2012) Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab 107(3):394–402
-
(2012)
Mol Genet Metab
, vol.107
, Issue.3
, pp. 394-402
-
-
DeBrosse, S.D.1
Okajima, K.2
Zhang, S.3
-
4
-
-
84870201223
-
Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment
-
PID: 22378660
-
Di Pisa V, Cecconi I, Gentile V et al (2012) Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment. J Child Neurol 27(12):1593–1596
-
(2012)
J Child Neurol
, vol.27
, Issue.12
, pp. 1593-1596
-
-
Di Pisa, V.1
Cecconi, I.2
Gentile, V.3
-
5
-
-
78651455294
-
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet
-
COI: 1:CAS:528:DC%2BC3MXhvFSnsbc%3D, PID: 21130013
-
El-Gharbawy AH, Boney A, Young SP, Kishnani PS (2011) Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab 102(2):214–215
-
(2011)
Mol Genet Metab
, vol.102
, Issue.2
, pp. 214-215
-
-
El-Gharbawy, A.H.1
Boney, A.2
Young, S.P.3
Kishnani, P.S.4
-
6
-
-
0024519085
-
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
-
COI: 1:CAS:528:DyaL1MXmtV2qsb0%3D, PID: 2537010
-
Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S (1989) Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. Am J Hum Genet 44(3):358–364
-
(1989)
Am J Hum Genet
, vol.44
, Issue.3
, pp. 358-364
-
-
Endo, H.1
Hasegawa, K.2
Narisawa, K.3
Tada, K.4
Kagawa, Y.5
Ohta, S.6
-
7
-
-
0017108579
-
Ketonic diet in the management of pyruvate dehydrogenase deficiency
-
COI: 1:STN:280:DyaE2s%2FjsFKlsw%3D%3D, PID: 824610
-
Falk RE, Cederbaum SD, Blass JP, Gibson GE, Kark RA, Carrel RE (1976) Ketonic diet in the management of pyruvate dehydrogenase deficiency. Pediatrics 58(5):713–721
-
(1976)
Pediatrics
, vol.58
, Issue.5
, pp. 713-721
-
-
Falk, R.E.1
Cederbaum, S.D.2
Blass, J.P.3
Gibson, G.E.4
Kark, R.A.5
Carrel, R.E.6
-
8
-
-
33846245520
-
Ketogenic diet improves sleep quality in children with therapyresistant epilepsy
-
PID: 17241208
-
Hallböök T, Lundgren J, Rosén I (2007) Ketogenic diet improves sleep quality in children with therapyresistant epilepsy. Epilepsia 48:59–65
-
(2007)
Epilepsia
, vol.48
, pp. 59-65
-
-
Hallböök, T.1
Lundgren, J.2
Rosén, I.3
-
9
-
-
84864079081
-
The effects of the ketogenic diet on behavior and cognition
-
PID: 21872440
-
Hallböök T, Ji S, Maudsley S, Martin B (2012) The effects of the ketogenic diet on behavior and cognition. Epilepsy Res 100(3):304–309
-
(2012)
Epilepsy Res
, vol.100
, Issue.3
, pp. 304-309
-
-
Hallböök, T.1
Ji, S.2
Maudsley, S.3
Martin, B.4
-
10
-
-
84919500201
-
Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia
-
PID: 25457511
-
Hallböök T, Sjölander A, Åmark P, Miranda M, Bjurulf B, Dahlin M (2015) Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia. Eur J Paediatr Neurol 19(1):29–36
-
(2015)
Eur J Paediatr Neurol
, vol.19
, Issue.1
, pp. 29-36
-
-
Hallböök, T.1
Sjölander, A.2
Åmark, P.3
Miranda, M.4
Bjurulf, B.5
Dahlin, M.6
-
11
-
-
34648840669
-
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes
-
PID: 17576572
-
Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH (2007) Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes. Childs Nerv Syst 23(11):1301–1307
-
(2007)
Childs Nerv Syst
, vol.23
, Issue.11
, pp. 1301-1307
-
-
Kang, H.C.1
Kwon, J.W.2
Lee, Y.M.3
Kim, H.D.4
Lee, H.J.5
Hahn, S.H.6
-
12
-
-
77953122223
-
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia
-
PID: 20022530
-
McWilliam CA, Ridout CK, Brown RM, McWilliam RC, Tolmie J, Brown GK (2010) Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia. Eur J Paediatr Neurol 14(4):349–353
-
(2010)
Eur J Paediatr Neurol
, vol.14
, Issue.4
, pp. 349-353
-
-
McWilliam, C.A.1
Ridout, C.K.2
Brown, R.M.3
McWilliam, R.C.4
Tolmie, J.5
Brown, G.K.6
-
13
-
-
0034956782
-
Experience with the ketogenic diet in infants
-
PID: 11433065
-
Nordli DR Jr, Kuroda MM, Carroll J et al (2001) Experience with the ketogenic diet in infants. Pediatrics 108(1):129–133
-
(2001)
Pediatrics
, vol.108
, Issue.1
, pp. 129-133
-
-
Nordli, D.R.1
Kuroda, M.M.2
Carroll, J.3
-
14
-
-
84855353341
-
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
-
COI: 1:CAS:528:DC%2BC38XlsFWhsw%3D%3D, PID: 22079328
-
Patel KP, O’Brien TW, Subramony SH, Shuster J, Stacpoole PW (2012) The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab 105(1):34–43
-
(2012)
Mol Genet Metab
, vol.105
, Issue.1
, pp. 34-43
-
-
Patel, K.P.1
O’Brien, T.W.2
Subramony, S.H.3
Shuster, J.4
Stacpoole, P.W.5
-
15
-
-
21344444566
-
Monocarboxylate transporters in the central nervous system: distribution, regulation and function
-
COI: 1:CAS:528:DC%2BD2MXlvFCksL4%3D, PID: 15953344
-
Pierre K, Pellerin L (2005) Monocarboxylate transporters in the central nervous system: distribution, regulation and function. J Neurochem 94(1):1–14
-
(2005)
J Neurochem
, vol.94
, Issue.1
, pp. 1-14
-
-
Pierre, K.1
Pellerin, L.2
-
16
-
-
80755140552
-
Pyruvate dehydrogenase deficiency and epilepsy
-
PID: 21908116
-
Prasad C, Rupar T, Prasad AN (2011) Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev 33(10):856–865
-
(2011)
Brain Dev
, vol.33
, Issue.10
, pp. 856-865
-
-
Prasad, C.1
Rupar, T.2
Prasad, A.N.3
-
17
-
-
0034998406
-
Effects of ketogenic diet on development and behavior: preliminary report of a prospective study
-
COI: 1:STN:280:DC%2BD3M3nsFGktQ%3D%3D, PID: 11368482
-
Pulsifer MB, Gordon JM, Brandt J, Vining EP, Freeman JM (2001) Effects of ketogenic diet on development and behavior: preliminary report of a prospective study. Dev Med Child Neurol 43:301–306
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 301-306
-
-
Pulsifer, M.B.1
Gordon, J.M.2
Brandt, J.3
Vining, E.P.4
Freeman, J.M.5
-
18
-
-
2642644904
-
Multienzyme complexes
-
COI: 1:CAS:528:DyaE2cXhtVGitL8%3D
-
Reed LJ (1974) Multienzyme complexes. Acc Chem Res 7:40–46
-
(1974)
Acc Chem Res
, vol.7
, pp. 40-46
-
-
Reed, L.J.1
-
19
-
-
0023200575
-
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
-
COI: 1:STN:280:DyaL1c%2FhtVemsw%3D%3D, PID: 3116190
-
Robinson B, MacMillan H, Petrova-Benedict R, Sherwood W (1987) Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 111:525–533
-
(1987)
J Pediatr
, vol.111
, pp. 525-533
-
-
Robinson, B.1
MacMillan, H.2
Petrova-Benedict, R.3
Sherwood, W.4
-
20
-
-
84937250766
-
Ketogenic diets in patients with inherited metabolic disorders
-
PID: 26109259
-
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D (2015) Ketogenic diets in patients with inherited metabolic disorders. J Inherit Metab Dis 38(4):765–773
-
(2015)
J Inherit Metab Dis
, vol.38
, Issue.4
, pp. 765-773
-
-
Scholl-Bürgi, S.1
Höller, A.2
Pichler, K.3
Michel, M.4
Haberlandt, E.5
Karall, D.6
-
21
-
-
84859482289
-
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency
-
PID: 21895644
-
Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR (2012) Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. Dev Med Child Neurol 54(5):469–471
-
(2012)
Dev Med Child Neurol
, vol.54
, Issue.5
, pp. 469-471
-
-
Sharma, R.1
Sharrard, M.J.2
Connolly, D.J.3
Mordekar, S.R.4
-
22
-
-
85016272293
-
Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation
-
PID: 23430811
-
Singhi P, De Meirleir L, Lissens W, Singhi S, Saini AG (2013) Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD Rep 10:107–111
-
(2013)
JIMD Rep
, vol.10
, pp. 107-111
-
-
Singhi, P.1
De Meirleir, L.2
Lissens, W.3
Singhi, S.4
Saini, A.G.5
-
23
-
-
84893686324
-
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1)
-
COI: 1:CAS:528:DC%2BC2cXhvVektb%2FO, PID: 23572181
-
Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE (2014) Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). Neuropediatrics 45(1):56–60
-
(2014)
Neuropediatrics
, vol.45
, Issue.1
, pp. 56-60
-
-
Steller, J.1
Gargus, J.J.2
Gibbs, L.H.3
Hasso, A.N.4
Kimonis, V.E.5
-
24
-
-
0347091766
-
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms
-
PID: 14729417
-
Wada N, Matsuishi T, Nonaka M, Naito E, Yoshino M (2004) Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. Brain Dev 26(1):57–60
-
(2004)
Brain Dev
, vol.26
, Issue.1
, pp. 57-60
-
-
Wada, N.1
Matsuishi, T.2
Nonaka, M.3
Naito, E.4
Yoshino, M.5
-
25
-
-
0031456509
-
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations
-
COI: 1:CAS:528:DyaK1cXitVCntg%3D%3D, PID: 9409363
-
Wexler ID, Hemalatha SG, McConnell J et al (1997) Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 49(6):1655–1661
-
(1997)
Neurology
, vol.49
, Issue.6
, pp. 1655-1661
-
-
Wexler, I.D.1
Hemalatha, S.G.2
McConnell, J.3
-
26
-
-
0026635309
-
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet
-
COI: 1:STN:280:DyaK38zltVeltw%3D%3D, PID: 1641082
-
Wijburg FA, Barth PG, Bindoff LA et al (1992) Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics 23(3):147–152
-
(1992)
Neuropediatrics
, vol.23
, Issue.3
, pp. 147-152
-
-
Wijburg, F.A.1
Barth, P.G.2
Bindoff, L.A.3
-
27
-
-
0001544644
-
The effect of ketonuria on the course of epilepsy
-
Wilder RM (1921) The effect of ketonuria on the course of epilepsy. Mayo Clin Bull 2:307
-
(1921)
Mayo Clin Bull
, vol.2
, pp. 307
-
-
Wilder, R.M.1
|