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21篇 您的检索式：作者名="MEIRLEIR L"

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	题名	作者	年代	出处	被引量
1	Mutation analysis of the pyruvate dehydrogenase El alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency显示文摘	Lissens W De Meirleir L Seneca S	1996	Hum Mutat1996，7，1：	1
2	Mutations in the X-linked pyruvate dehydrogenase (El) subunit gene (PDHA1) in patients with a pymvate dehydrogenase complex deficiency 显示文摘	Lissens W De Meirleir L Seneca S	2000	Hum Murat2000，15，3：	1
3	Disorders of pyruvate metabolism 显示文摘	De Meirleir L	2013	Handbook Clin Neurol2013，113，：	1
4	Disorders of pyruvate metabolism显示文摘	De Meirleir L	2013	Handb Clin Neurol2013，113，：	1
5	Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency显示文摘	Lissens W De Meirleir L Seneca S	1996	Hum Mutat1996，7，1：	1
6	Mutations in the X-linked pyruvate dehydrogenase (E1) a suhunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex defieiency显示文摘	LISSENS W MEIRLEIR L SENECA S et cd	2000	Hum Mutat2000，15，3：	1
7	The rheological properties of hydrogenated castor oil crystals显示文摘	de Meirleir N Pellens L Broeckx W	2014	Colloid and Polymer Science2014，292，10：	1
8	A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome显示文摘	Seneca S Verhelst H De Meirleir L Meire F Ceuterick-De Groote C Lissens W	2001	Arch Neurol2001，58，7：	1
9	Leigh syndrome due to pymvate dehydrogenase E1 alpha deficiency (point mutation R236G) in a Spanish boy显示文摘	Briones P Lopez M J De Meirleir L	1996	J Inher Metab Dis1996，19，6：	1
10	Mutations in the X-linked pyruvate dehydrogenase ( E1 ) c- subunit gene ( PDHA1 ) in patients with a pymvate dehydrogenase complex deficiency 显示文摘	Lissens W Meirleir L D Seneca S	2000	Hum Mutat2000，15，3：	1
11	Acrodermatitis enteropathica-like cutaneous lesions in organic acid-uria显示文摘	De Raeve L De Meirleir L Ramet J Vandenplas Y Gerlo E	1994	J Pediatr1994，124，3：	1
12	Mutations in the X linked pyruvate dehydrogenase(E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency显示文摘	LISSENS W DE MEIRLEIR L SENECA S	2000	Hum Mutat2000，15，3：	1
13	Mutations in the X-linked pyruvate dehydrogenase(E1)alpha subunit gene(PDHA1)in patients with a pyruvate dehydrogenase complex deficiency显示文摘	Lissens W De Meirleir L Seneca S	2000	Human Mutation2000，15，3：	1
14	Myalgic encephalomyelitis/chronic fatigue syndrome: clinical working case definition, diagnostic and treatment protocols 显示文摘	Carruthers B M Jain A K De Meirleir K L	2003	JCFS2003，11，1：	1
15	Mucopolysaccharidosis type Ⅱ: European recom- mendations for the diagnosis and multidisciplinary management of a rare disease显示文摘	Scarpa M Almtssy Z Beck M Bodamer O Bruce IA De Meirleir L	2011	Orphanet J Rare Dis2011，6，：	1
16	LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood显示文摘	CarolineMichot LaurenceHubert MichèleBrivet LindaDe Meirleir VassiliValayannopoulos WolfgangMüller‐Felber RameshVenkateswaran HélèneOgier IsabelleDesguerre CéciliaAltuzarra ElizabethThompson MartinSmitka AngelaHuebner MarieHusson RitaHorvath PatrickChinne	2010	Hum. Mutat2010，，7：	1
17	Mutations in the X- linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyrnvate dehydrogenase complex deficiency显示文摘	Lissens W De Meirleir L Seneca S	2000	Hum Mutat2000，15，：	1
18	Disorders of pyrnvate metabolism显示文摘	De Meirleir L	2013	Handb Clin Neurol2013，113，：	1
19	Defects of pyruvate metabolism and the Krebs cycle显示文摘	De Meirleir L	2002	J Child Neurol2002，17，3：	1
20	Leigh Syndrome Due to Pyruvate Dehydrogenase E1 Alpha Deficiency (Point Mutation R236G) in a Spanish Boy 显示文摘	Briones P Lopez M J De Meirleir L	1996	J Inher Metab Dis1996，19，：	1

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