Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
about
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneA mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyA nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseasePrenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disordersMitochondrial disease in childhood: nuclear encodedNQR1 controls lifespan by regulating the promotion of respiratory metabolism in yeast.Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisA guide to diagnosis and treatment of Leigh syndrome.Central nervous system manifestations of mitochondrial disorders.Clinical presentations of coenzyme q10 deficiency syndromeTargeting cellular energy production in neurological disorders.The genetics of Leigh syndrome and its implications for clinical practice and risk managementCOQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyMutations in coenzyme Q10 biosynthetic genes.CoQ10 deficiency diseases in adults.Human coenzyme Q10 deficiencyHeterogeneity of coenzyme Q10 deficiency: patient study and literature review.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.How can we treat mitochondrial encephalomyopathies? Approaches to therapyDrugs interfering with mitochondrial disorders.Coenzyme Q10 deficiencies in neuromuscular diseases.Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations.Coenzyme Q and mitochondrial diseaseUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Leigh syndrome: One disorder, more than 75 monogenic causes.Human CoQ10 deficienciesThree-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 MutationsCoadministration of coenzyme Q prevents rosiglitazone-induced adipogenesis in ob/ob mice.Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.Leigh syndrome: the genetic heterogeneity story continues.Movement disorders in mitochondrial disease.A history of mitochondrial diseases.
P2860
Q24301853-39F18ACC-0E2F-43E4-B2B9-F32B33295233Q24540570-8D5DF71B-1F9E-42B3-832B-36D8413D8D5AQ24645475-1D49D782-1031-4780-9573-CE1B50AA8DDBQ24669541-085B6F32-B6C0-48D2-8677-4F4723EEF9F6Q26820866-AFCD72A3-B7AA-4C9E-90C8-87583DA189C9Q27932205-BDD028BA-B8C3-4EFC-9BB4-F57C184DE0ECQ28115898-628AD592-E496-4598-8F20-576E2FED4C67Q30649372-DFC8E7F4-EF91-4A8C-AA21-85574C2C4729Q31058031-02530B22-2803-4D60-8A14-9BB1333C30D6Q33956923-0904869A-F1C1-411F-8C1C-EF58000F4BA0Q34266266-32FE6DD3-722A-4486-A5E5-0BAF461FA891Q34532004-F90C55F3-8938-41F8-9241-BF28B86EC96BQ35059346-D414AACD-5A5A-45B6-A5D4-E4CF2904253BQ35221744-22B685C4-25B2-4F07-9D4B-3C13DD45D2D4Q35569154-ED5A69B5-D333-4B7B-BD04-348AD74D388BQ35649411-2CB84211-1AB5-4AE5-8169-0C6DFA747EA6Q36026895-589401C0-C265-489A-87D7-1CCF2DCC66B8Q36648798-C17DA9E6-3F15-4054-9F62-676C6C04D9A5Q36804303-A49D4FB4-D84F-4DBA-81CB-E5F4C1BEDDC7Q37206274-B6A86001-1C35-4162-AF99-F9FE7E847559Q37234710-DF50CD44-AC52-4C6E-BBE6-D51FA65FE6DFQ37329530-1D7F8850-C8E3-4784-8538-F4E307F6CC5AQ37617357-D15137CA-C221-4C1D-BE4B-6B36595E51DCQ37708105-521D8B7A-EE97-4E79-B022-C4596BF1CF48Q37767167-E5832048-466B-494C-A839-583758749DB5Q37785517-D47A908B-B972-4A87-BC54-FC6477714837Q37974512-8AA5950D-8CAA-4B60-AA18-7F916ED93459Q38617364-93497846-2092-476B-8925-5C1B4535851CQ39837453-6D55B309-8AC5-4B7E-938B-B46AB49CE424Q42275709-960D939C-4011-41BF-812F-103C7FF3D388Q46174247-1BCF807D-3141-46D5-BD34-632D739B51FBQ46273409-C04FC5A4-0A91-498D-BDD4-339515294A64Q48475711-3BDB758B-8E42-4B41-B832-5C0BBF3311DCQ50147063-5DCA7C93-7913-4A33-AF3F-822515C89070Q53075411-6F09EC70-21EC-4C00-962E-C4C4EAE96684
P2860
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@ast
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@en
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@nl
type
label
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@ast
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@en
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@nl
prefLabel
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@ast
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@en
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@nl
P2093
P356
P1433
P1476
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
@en
P2093
Antoon Janssen
Frans Trijbels
Jean-Jacques Martin
Olimpia Musumeci
Pavel J Sindelar
Xavier Delberghe
Yves Gillerot
P304
P356
10.1002/ANA.10371
P577
2002-12-01T00:00:00Z