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. 1+1QqFghvFJ73gbXUFbkgyxZoqJyQBlZDi7liunYAykqDyArF6VdXM76nZb62SLr