购买
下载掌阅APP,畅读海量书库
立即打开
畅读海量书库
扫码下载掌阅APP

参考文献

1.Adamkin DH.Metabolic screening and postnatal glucose homeostasis in the newborn.Pediatr Clin North Am,2015,62(2):385-409.

2.Alter BP.Pearson syndrome in a Diamond-Blackfan anemia cohort.Blood,2014,124:312-313.

3.Bittel DC,Yu S,Newkirk H,et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.Cytogenet Genome Res,2009,124:113-120.

4.Brown CS,Lichter-Konecki U.Phenylketonuria(PKU):A problem solved?Mol Genet Metab Rep,2015,6:8-12.

5.Camp KM,Parisi MA,Acosta PB,et al. Phenylketonuria Scientific Review Conference:state of the science and future research needs.Mol Genet Metab,2014,112(2):87-122.

6.Cau M,Addis M,Congiu R,et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.J Hum Genet,2006,51:1030-1036.

7.Chaturvedi S,Singh AK,Keshari AK,et al. Human Metabolic Enzymes Deficiency:A Genetic Mutation Based Approach.Scientifica(Cairo),2016,2016:9828672.

8.Cho SY,Lam CW,Tong SF,et al. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.Clin Chim Acta,2013,426:75-78.

9.Dionisi-Vici C,Deodato F,Röschinger W,et al.‘Classical’ organic acidurias,propionic aciduria,methylmalonic aciduria and isovaleric aciduria:long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.J Inherit Metab Dis,2006,29(2-3):383-389.

10.Dundar H,Ozgul RK,Guzel-Ozanturk A,et al.Microarray based mutational analysis of patients with methylmalonic acidemia:identification of 10 novel mutations.Mol Genet Metab,2012,106:419-423.

11.Gabrielli O,Clarke LA,Ficcadenti A,et al. 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I:the important role of early treatment.BMC Med Genet,2016,17:19.

12.Gataullina S,Delonlay P,Lemaire E,et al. Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.Dev Med Child Neurol,2015,57(2):194-199.

13.Ginocchio VM,Brunetti-Pierri N.Progress toward improved therapies for inborn errors of metabolism.Hum Mol Genet,2016,25(R1):R27-35.

14.Liu J,Dong L,Wang Y,et al. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.Int J Clin Exp Med,2015,8:2656-2661.

15.Jameson E,Jones S,Remmington T.Enzyme replacement therapy with laronidase [Aldurazyme(®)] for treating mucopolysaccharidosis type I.Cochrane Database Syst Rev,2016,4.

16.Knerr I,Weinhold N,Vockley J,et al. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.J Inherit Metab Dis,2012,35(1):29-40.

17.Kumar AB,Masi S.Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes:Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II,IVA,and VI.Clin Chem,2015,61(11):1363-1371.

18.Mak CM,Lee HC,Chan AY,et al. Inborn errors of metabolism and expanded newborn screening:review and update.Crit Rev Clin Lab Sci,2013,50(6):142-162.

19.Mancuso M,Orsucci D,Angelini C,et al. Redefining phenotypes associated with mitochondrial DNA single deletion.J Neurol,2015,262(5):1301-1309.

20.Meade C,Bonhomme NF.Newborn Screening:Adapting to Advancements in Whole-Genome Sequencing.Genet Test Mol Biomarkers,2014,18(9):597-598.

21.Michael H.Gelb,C.Ronald Scott,FrantisekTurecek.Newborn Screening for Lysosomal Storage Diseases.Clin Chem,2015,61(2):335-346.

22.Milone M,Wong LJ.Diagnosis of mitochondrial myopathies.Mol Genet Metab,2013,110:35-41.

23.Nicolas G,Rovelet-Lecrux A,Pottier C,et al. PDGFB partial deletion:a new,rare mechanism causing brain calcification with leukoencephalopathy.J Mol Neurosci,2014,53:171-175.

24.Ozben T.Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry.Clin Chem Lab Med,2013,51(1):157-176.

25.Pérez B,Rodríguez-Pombo P,Ugarte M,et al.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Mol Syndromol,2012,3(5):230-236.

26.Therrell BL Jr,Lloyd-Puryear MA,Camp KM,et al. Inborn errors of metabolism identified via newborn screening:Ten-year incidence data and costs of nutritional interventions for research agenda planning.Mol Genet Metab,2014,113(1-2):14-26.

27.Vernon HJ.Inborn Errors of Metabolism:Advances in Diagnosis and Therapy.JAMA Pediatr,2015,169(8):778-782.

28.Vockley J,Andersson HC,Antshel KM,et al.Phenylalanine hydroxylase deficiency:diagnosis and management guideline.Genet Med,2014,16(2):188-200.

29.Wertheim-Tysarowska K,Gos M,Sykut-Cegielska J,et al. Genetic analysis in inherited metabolic disorders—from diagnosis to treatment.Ownexperience,current state of knowledge and perspectives.Dev Period Med,2015,19(4):413-431.

30.Wilcken B,Wiley V.Newborn screening.Pathology,2008,40(2):104-115.

31.Yamaguchi S.Newborn screening in Japan:restructuring for the new era.Ann Acad Med Singapore,2008,37(12 Suppl):13-15.

32.Yoon HR.Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry.Ann Pediatr Endocrinol Metab,2015,20(3):119-124.

33.Zlotorynski E.Non-coding RNA:X-chromosome inactivation unravelled.Nat Rev Mol Cell Biol,2015,16(6):325. +GHAYGIxrKZ+B/MgLoMdSAu7sg0nf/15m7k3W5DVh+1i/LnVLwqboLCzv2gZMh5d

点击中间区域
呼出菜单
上一章
目录
下一章
×