A citation-based method for searching scientific literature

W Lissens, L De Meirleir, S Seneca, I Liebaers, G K Brown, R M Brown, M Ito, E Naito, Y Kuroda, D S Kerr, I D Wexler, M S Patel, B H Robinson, A Seyda. Hum Mutat 2000
Times Cited: 138







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



Times Cited
  Times     Co-cited
Similarity


Pyruvate dehydrogenase deficiency.
G K Brown, L J Otero, M LeGris, R M Brown. J Med Genet 1994
115
19

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Ruth M Brown, Rosemary A Head, Ivan I Boubriak, James V Leonard, Neil H Thomas, Garry K Brown. Hum Genet 2004
33
57

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Jessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, Ingrid Tein, Brian H Robinson. Am J Med Genet A 2004
34
55

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
32


Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
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
97
17

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
16

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
16

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
43
37


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
35


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

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
59

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
44

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
38



Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
M T Johnson, S Mahmood, S L Hyatt, H S Yang, P D Soloway, R W Hanson, M S Patel. Mol Genet Metab 2001
61
18


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
24
45

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
78


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
20


A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.
D S Kerr, S A Berry, M M Lusk, L Ho, M S Patel. Pediatr Res 1988
64
14

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.
D S Kerr, L Ho, C M Berlin, K F Lanoue, J Towfighi, C L Hoppel, M M Lusk, C M Gondek, M S Patel. Pediatr Res 1987
71
12

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
G Bonne, C Benelli, L De Meirleir, W Lissens, M Chaussain, M Diry, J P Clot, G Ponsot, V Geoffroy, J P Leroux. Pediatr Res 1993
32
28

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.
G K Brown, E A Haan, D M Kirby, R D Scholem, J E Wraith, J G Rogers, D M Danks. Eur J Pediatr 1988
95
9

First characterization of a large deletion of the PDHA 1 gene.
Michèle Brivet, Marie-Laure Moutard, Mokhtar Zater, Lydia Venet, Claude Chenel, Manuele Mine, A Legrand. Mol Genet Metab 2005
15
60

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
47

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
55
16


Leigh syndrome: clinical features and biochemical and DNA abnormalities.
S Rahman, R B Blok, H H Dahl, D M Danks, D M Kirby, C W Chow, J Christodoulou, D R Thorburn. Ann Neurol 1996
531
8


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
36

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
36

Lactic acidaemia.
B H Robinson, W G Sherwood. J Inherit Metab Dis 1984
56
12



Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
W Lissens, L De Meirleir, S Seneca, C Benelli, C Marsac, B T Poll-The, P Briones, W Ruitenbeek, O van Diggelen, D Chaigne,[...]. Hum Mutat 1996
33
21

A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.
A Seyda, K Chun, S Packman, B H Robinson. J Inherit Metab Dis 2001
10
70

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Runu Dey, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac. Ann Neurol 2003
19
36


A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Már Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson, Willy Lissens, Linda De Meirleir, Elisabeth Holme. Eur J Pediatr 2005
11
63

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
B Aral, C Benelli, G Ait-Ghezala, M Amessou, F Fouque, C Maunoury, N Créau, P Kamoun, C Marsac. Am J Hum Genet 1997
40
17


DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
J Matsuda, M Ito, E Naito, I Yokota, Y Kuroda. J Inherit Metab Dis 1995
21
33

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Peter W Stacpoole, Douglas S Kerr, Carie Barnes, S Terri Bunch, Paul R Carney, Eileen M Fennell, Natalia M Felitsyn, Robin L Gilmore, Melvin Greer, George N Henderson,[...]. Pediatrics 2006
182
7

Clinical diversity of pyruvate dehydrogenase deficiency.
J H Cross, A Connelly, D G Gadian, B E Kendall, G K Brown, R M Brown, J V Leonard. Pediatr Neurol 1994
41
17


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.