311 results on '"Han, Lianshu"'
Search Results
2. Late-onset cblC defect: clinical, biochemical and molecular analysis
3. Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
4. Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
5. Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
6. Newborn screening of maple syrup urine disease and the effect of early diagnosis
7. In utero exposure to perfluoroalkyl substances and early childhood BMI trajectories: A mediation analysis with neonatal metabolic profiles
8. Newborn Screening for 6 Lysosomal Storage Disorders in China
9. Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.
10. Current Status and Prospects of Screening for Newborn Hereditary Metaboolic Disease
11. Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants
12. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
13. Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots
14. Dynamic changes in blood amino acid concentrations in preterm infants in different nutritional periods
15. Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
16. Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China
17. Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening
18. Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
19. Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
20. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
21. Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease
22. Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
23. Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
24. A rare form of Gaucher disease resulting from saposin C deficiency
25. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
26. Targeted metabolomics unravels altered phenylalanine levels in piglets receiving total parenteral nutrition
27. Late-onset cblC defect: clinical, biochemical and molecular analysis
28. Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
29. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
30. Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
31. Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
32. Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
33. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
34. Additional file 1 of Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
35. Newborn screening for genetic disorders: Current status and prospects for the future
36. Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China
37. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China
38. A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
39. Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
40. The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening
41. Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia
42. Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
43. Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
44. Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes
45. The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
46. Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations
47. A new case of malonyl-CoA decarboxylase deficiency with mild clinical features
48. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia
49. 21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
50. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study
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