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42篇 您的检索式：作者名="Morava E"

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	题名	作者	年代	出处	被引量
1	Small inherited terminal duplication of 7q with hydrocephalus,cleft palate,joint con- tractures,and severe hypotonia显示文摘	Morava E Bartsch O Czako M	2003	Clin Dysmorphol2003，12，2：	1
2	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E	2007	Nat Genet2007，39，1：	1
3	Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation显示文摘	Morava E Lefeber D J Urban Z	2008	Eur J Hum Genet2008，16，1：	1
4	Vascular diseases,spina bifida and schizophrenia in a single family associated with the heterozygote mutation of the heat-sensitive variant of methylenetetrahydrofolate reductase显示文摘	Horvath A Morava E Toth G	2001	Orv Hetil2001，142，27：	1
5	Influence of genetic poly- morphisms on bone disease of preterna infants 显示文摘	Funke S Morava E Czako M	2006	Pediatr Res2006，60，：	1
6	Galactose supplementation in phosphoglucomutase-1 deficiency: review and outlook for a novel treatable CDG显示文摘	MORAVA E	2014	Mol Genet Metab2014，112，4：	1
7	Ann Clin Biochem显示文摘	Morava E Kosztolanyi G Engelke U F H Wevers R A	2003	40 (1) : 1082003，40，1：	1
8	Influence of genetic polymorphisms on bone disease of preterm infants显示文摘	Funke S Morava E Czako M	2006	Pediatr Res2006，60，5：	1
9	Carnitine dependent changes of metabolic fuel consumption during long term treatment with valproic acid显示文摘	Melegh B Pap M Morava E	1994	J Pediatr1994，125，：	1
10	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutrallipid storage disease with myopathy 显示文摘	Fischer J Lefevre C Morava E	2007	Nature ( enctics2007，39，：	1
11	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism显示文摘	Morava E Wevers R A Cantagrel V	2010	Brain2010，133，11：	1
12	3-methylglutaconic aciduria type IV :a syndrome with an evolving phenotype显示文摘	Wortmann SB Morava E	2011	CIin Dysmorphol2011，20，3：	1
13	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E	2007	Nat Genet2007，39，1：	1
14	Decreased bone mineral density as a risk factor in the development of spinal deformities in neurofibromatosis显示文摘	Halmai V Szasz K Morava E	2001	Orv Hetil2001，142，52：	1
15	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E		0，，：	1
16	Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to poly- merasc gamma ( POLG1 ) mutations 显示文摘	de Vries MC Rodenburg RJ Morava E van Kaauwen EP ter Laak H Mullaart RA	2007	Eur J Pediatr2007，166，3：	1
17	Carnitine - responsive carnitine in- sufficiency in a case of mtDNA 8993T > C mutation associated Leigh syndrome 显示文摘	Toth G Morava E Bene J	2001	Inherited Metabolic Disease2001，24，：	1
18	Multiple oxidative phosphorylation deficiencies in severe childhood muhi - system disorders due to polymerase gamma (POLG1) mutations 显示文摘	de Vries MC Rodenburg R J Morava E	2007	Eur J Pediatr2007，166，3：	1
19	Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria 显示文摘	Morava E Kosztolanyi G Engelke U	2003	Ann Clin Biochem2003，40，1：	1
20	Primary eamitine (OCTN2) deficiency without neonatal carnitine deficiency 显示文摘	DE BOER L KLUIJTMANS LA MORAVA E	2013	JIMD Rep2013，10，：	1

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