Volume: 33 Issue: 20

1. Diagnosis and identification of related inherited metabolic disorders in children with hypoglycemia Page:1521—1526
2. Perspective on diagnosis and treatment of congenital hyperinsulinism Page:1526—1531
3. Summary of International Classification of Functioning, Disability and Health core sets for individuals with autism spectrum disorders Page:1532—1536
4. High risk screening and disease spectrum for 24 kinds of lysosomal storage diseases Page:1537—1540
5. Analysis of clinical diagnosis and treatment of 20 children with hypophosphatemic tickets Page:1541—1544
6. Phenylalanine hydroxylase gene mutations analysis on phenylketonuria patients of Han Chinese people in Huaihai region Page:1545—1549
7. Three siblings with neuronal ceroid lipofuscinosis type 7 and 2 novel mutations in their MFSD8 gene Page:1550—1553
8. Screening and SLC22A5 gene mutations of the patients with primary carnitine deficiency Page:1554—1559
9. A familial case of Blau syndrome caused by dual NOD2 genetic mutations Page:1560—1563
10. Clinical features and genetic analysis of Currarino syndrome Page:1564—1567
11. New mutation of ACADVL-related very long chain acyl-CoA dehydrogenase deficiency Page:1568—1572
12. Vomiting, weakness and glyceroluria after eating dessert Page:1573—1577
13. Clinical characteristics and gene mutation of two Chinese siblings in a family with Cockayne syndrome Page:1578—1581
14. Clinical characteristics,hepatic pathology and 1,4-α-glucan branching enzyme gene mutations of a patient with infantile-onset glycogen storage disease type Ⅳ Page:1581—1583
15. Clinical and genetic analysis of novel 17q12 microdeletion syndrome Page:1584—1586
16. Detection rate of brachydactyly type A3 in 1 208 Han Chinese children Page:1586—1587
17. Case report of Hutchinson-Gilford Progeria syndrome in a Chinese child Page:1588—1590
18. Case report of Schaaf-Yang syndrome Page:1590—1591
19. Clinical characteristics and genetic analysis in two patients with congenital lipoid adrenal hyperplasia Page:1592—1594
20. Case report of primary adrenal insufficiency in a preterm infant Page:1594—1595
21. Research progress on plastic bronchitis Page:1596—1600