A citation-based method for searching scientific literature

Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
Times Cited: 96







List of co-cited articles
1096 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
I D Wexler, S G Hemalatha, J McConnell, N R Buist, H H Dahl, S A Berry, S D Cederbaum, M S Patel, D S Kerr. Neurology 1997
155
20

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole. Mol Genet Metab 2012
104
19

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
W Lissens, L De Meirleir, S Seneca, I Liebaers, G K Brown, R M Brown, M Ito, E Naito, Y Kuroda, D S Kerr,[...]. Hum Mutat 2000
137
17

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Suzanne D DeBrosse, Kazuki Okajima, Shulin Zhang, Ghunwa Nakouzi, Christine L Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S Kerr. Mol Genet Metab 2012
54
31

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
Catherine A McWilliam, Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown. Eur J Paediatr Neurol 2010
28
53

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Rosemary A Head, Ruth M Brown, Zarazuela Zolkipli, Raveen Shahdadpuri, Mary D King, Peter T Clayton, Garry K Brown. Ann Neurol 2005
58
25

Pyruvate dehydrogenase deficiency.
G K Brown, L J Otero, M LeGris, R M Brown. J Med Genet 1994
115
14

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
E Quintana, L Gort, C Busquets, A Navarro-Sastre, W Lissens, S Moliner, M Lluch, M A Vilaseca, L De Meirleir, A Ribes,[...]. Clin Genet 2010
29
48

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole. Mol Genet Metab 2012
81
17

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
219
12

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.
B H Robinson, H MacMillan, R Petrova-Benedict, W G Sherwood. J Pediatr 1987
149
12

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
A Imbard, A Boutron, C Vequaud, M Zater, P de Lonlay, H Ogier de Baulny, C Barnerias, M Miné, C Marsac, J-M Saudubray,[...]. Mol Genet Metab 2011
52
23


Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.
Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Se Hoon Kim, Eung Yeop Kim, Seung Koo Lee, Abdelhamid Slama, Heung Dong Kim. Epilepsia 2008
93
11

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Junko Matsuda, Yukiko Ogawa, Seiko Kitamura, Eiko Takada, Yoshihiro Horii, Yasuhiro Kuroda. Biochim Biophys Acta 2002
31
32

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
K Okajima, L G Korotchkina, C Prasad, T Rupar, J A Phillips, C Ficicioglu, J Hertecant, M S Patel, D S Kerr. Mol Genet Metab 2008
23
39

In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
Dina J Zand, Erin M Simon, Steven B Pulitzer, D J Wang, Z J Wang, Lucy B Rorke, Michael Palmieri, Gerard T Berry. AJNR Am J Neuroradiol 2003
31
29

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
João P Soares-Fernandes, Roseli Teixeira-Gomes, Romeu Cruz, Manuel Ribeiro, Zita Magalhães, Jaime F Rocha, Lara M Leijser. Pediatr Radiol 2008
19
47

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
56
16

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
R A Head, C G E L de Goede, R W N Newton, J H Walter, M A McShane, R M Brown, G K Brown. Dev Med Child Neurol 2004
24
33

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
S Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, R Appleton, H Caldeira Araújo, M Duran, R Ensenauer, E Fernandez-Alvarez, P Garcia, C Grolik,[...]. Neurology 2006
105
8

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
R M Brown, R A Head, A A M Morris, J A J Raiman, J H Walter, W P Whitehouse, G K Brown. Dev Med Child Neurol 2006
19
42

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
F-G Debray, M Lambert, R Gagne, B Maranda, R Laframboise, N MacKay, B H Robinson, G A Mitchell. Neuropediatrics 2008
23
34


Leigh's disease due to a new mutation in the PDHX gene.
Manuel Schiff, Manuele Miné, Michèle Brivet, Cécile Marsac, Monique Elmaleh-Bergés, Philippe Evrard, Hélène Ogier de Baulny. Ann Neurol 2006
21
38


Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.
L De Meirleir, W Lissens, R Denis, J L Wayenberg, A Michotte, J M Brucher, E Vamos, E Gerlo, I Liebaers. Pediatr Neurol 1993
49
16

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez, Teresa Rizza, Rosalba Carrozzo, Enrico Bertini, Marcelo Miranda. Eur J Paediatr Neurol 2015
29
27

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin. J Inherit Metab Dis 2017
62
12

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
207
7

The spectrum of movement disorders in Glut-1 deficiency.
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
95
7

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects.
Hoon-Chul Kang, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Abdelhamid Slama. Epilepsia 2007
125
7


Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Mary C Maj, Neviana MacKay, Valeriy Levandovskiy, Jane Addis, E Regula Baumgartner, Matthias R Baumgartner, Brian H Robinson, Jessie M Cameron. J Clin Endocrinol Metab 2005
42
16

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
J M Cameron, M Maj, V Levandovskiy, C P Barnett, S Blaser, N Mackay, J Raiman, A Feigenbaum, A Schulze, B H Robinson. Hum Genet 2009
20
35

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Cheryl K Ridout, Ruth M Brown, John H Walter, Garry K Brown. Hum Genet 2008
14
50

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.
H H Dahl, L L Hansen, R M Brown, D M Danks, J G Rogers, G K Brown. J Inherit Metab Dis 1992
44
15


Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
François-Guillaume Debray, Marie Lambert, Isabelle Chevalier, Yves Robitaille, Jean-Claude Decarie, Eric A Shoubridge, Brian H Robinson, Grant A Mitchell. Pediatrics 2007
108
7

Epileptic phenotypes in children with respiratory chain disorders.
Sandra El Sabbagh, Anne-Sophie Lebre, Nadia Bahi-Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Munnich,[...]. Epilepsia 2010
71
9

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
116
7

Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
D C De Vivo, R R Trifiletti, R I Jacobson, G M Ronen, R A Behmand, S I Harik. N Engl J Med 1991
477
6

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.
A Michotte, L De Meirleir, W Lissens, R Denis, J L Wayenberg, I Liebaers, J M Brucher. Acta Neuropathol 1993
22
27

Females with PDHA1 gene mutations: a diagnostic challenge.
Marjolein Willemsen, Richard J T Rodenburg, Alexandra Teszas, Lambert van den Heuvel, Gyorgy Kosztolanyi, Eva Morava. Mitochondrion 2006
17
35

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.
T Fujii, M B Garcia Alvarez, K F Sheu, P J Kranz-Eble, D C De Vivo. Pediatr Neurol 1996
22
27

Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Hoon-Chul Kang, Ji Won Kwon, Young Mock Lee, Heung Dong Kim, Hong Jin Lee, Si Houn Hahn. Childs Nerv Syst 2007
18
33


Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Yukiko Ogawa, Yasuhiro Kuroda. J Neurol Sci 2002
22
27

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
C Marsac, C Benelli, I Desguerre, M Diry, F Fouque, L De Meirleir, G Ponsot, S Seneca, F Poggi, J M Saudubray,[...]. Hum Genet 1997
39
15

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Curtis R Coughlin, Ian D Krantz, Eric S Schmitt, Shulin Zhang, Lee-Jun C Wong, Douglas S Kerr, Jaya Ganesh. Mol Genet Metab 2010
7
85


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.