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1495篇 您的检索式：期刊名="Mol Genet Metab"

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	题名	作者	年代	出处	被引量
1	The role of folate transport and metabolism in neural tube defect risk显示文摘	Lammer EJ Shaw GM	1999	Mol Genet Metab JT-Molecular genetics and metabolism1999，66，1：	1
2	Mammalian N-acetylglutamate synthase显示文摘	Morizono H Caldovic L Shi D	2004	Mol Genet Metab2004，811，：	1
3	Phenylalanine hydroxylase deficiency:Molecular epidemiology and predictable BH (4)-responsiveness in South Portugal PKU patients显示文摘	Rivera I Mendes D Afonso A	2011	Mol Genet Metab2011，104，1：	1
4	Genome-wide scan for CAG/CTG repeat expansions in Pimas with early onset of type 2 diabetes mellitus 显示文摘	Wolford JK Bogardus C Prochazka M	1999	Mol Genet Metab1999，66，1：	1
5	Maternally inherited heating loss is associated with the novel mitochondrial tRNASer( UCN)7505T > C mutation in a Han Chinese family显示文摘	Tang X Li R Zheng J	2010	Mol Genet Metab2010，100，1：	1
6	1)orenbaum, phenyl- alanine blood levels and clinical outcomes in phenylketonuri a:a systematic literature review and meta analysis 显示文摘	Waisbren SE Noel K Fahrbaeh K el al	2007	Mol Genet Metab2007，92，：	1
7	A novel mutation(M31OL)in the thyroid hormone receptor Pcausing resistance to thyroid hormone in a Brazilian kindred an a neonate显示文摘	Furlanetto TW Kopp P Peccin S	2000	Mol Genet Metab2000，71，：	1
8	Multi-domain impact of elosufasealfa in Morquio A syndrome in the piv-otal phase III trial 显示文摘	HENDRIKSZ CJ GIUGLIANI R HARMATZ P	2015	Mol Genet Metab2015，114，2：	1
9	Optic atrophies in metabolic disorders显示文摘	Huizing M Brooks BP Anikster Y	2005	Mol Genet Metab2005，86，12：	1
10	Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency 显示文摘	GILLINGHAM MB SCOTt B ELLIOTT D	2006	Mol Genet Metab2006，89，12：	1
11	A novel missense mutation(G43S)in the switch I region of Rab27A causing Griscelli syndrome显示文摘	Westbroek W Tuchman M Tinloy B	2008	Mol Genet Metab2008，94，：	1
12	Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy显示文摘	Boehm CD Cutting GR Lachtermacher MB	1999	Mol Genet Metab1999，66，：	1
13	SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma 显示文摘	Chang K W Chen H L Chien Y H	2011	Mol Genet Metab2011，103，3：	1
14	Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity显示文摘	XING Y ICHIDA F MATSUOKA T	2006	Mol Genet Metab2006，88，1：	1
15	Molecular ge netics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsive ness in Turkish PKU population显示文摘	Dobrowolski SF Heintz C Miller T	2011	Mol Genet Metab2011，102，2：	1
16	The metabolic arm molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency 显示文摘	Blau N Erlandsen H	2004	Mol Genet Metab2004，82，2：	1
17	Peroxisomes, lipid metabolism, and peroxisomal disorders 显示文摘	Wanders RJ	2004	Mol Genet Metab2004，83，12：	1
18	Phenylketonuria mutatitions in Northern China显示文摘	Song F Qu YJ Zhang T	2005	Mol Genet Metab2005，86，1：	1
19	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening显示文摘	Lee NC Tang NL Chien YH	2010	Mol Genet Metab2010，100，1：	1
20	Epigenetics and the developmental origins of lung disease显示文摘	Joss-Moore L A Albertine K H Lane R H	2011	Mol Genet Metab2011，104，12：	1

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