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Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
- Published in:
- 2021
- By:
- Publication type:
- journal article
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.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0560-6
- By:
- Publication type:
- Article
Propanediol Cyclic Sulfate as An Electrolyte Additive to Improve the Cyclic Performance of LiNi<sub>0.6</sub>Co<sub>0.1</sub>Mn<sub>0.3</sub>O<sub>2</sub>/Graphite Pouch‐Cell at High Voltage.
- Published in:
- ChemElectroChem, 2023, v. 10, n. 3, p. 1, doi. 10.1002/celc.202201039
- By:
- Publication type:
- Article
A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.903488
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- Publication type:
- Article
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 433, doi. 10.1515/jpem-2012-0343
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- Publication type:
- Article
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03070-8
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- Publication type:
- Article
Late-onset cblC defect: clinical, biochemical and molecular analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4
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- Publication type:
- Article
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02737-y
- By:
- Publication type:
- Article
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347
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- Publication type:
- Article
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 557, doi. 10.1002/humu.24345
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- Publication type:
- Article
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 614, doi. 10.1002/humu.24192
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- Publication type:
- Article
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.898860
- By:
- Publication type:
- Article
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.805599
- By:
- Publication type:
- Article
Correction to: Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Correction to: Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.
- Published in:
- Protein & Cell, 2019, p. 1, doi. 10.1007/s13238-019-0631-2
- By:
- Publication type:
- Article
Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.
- Published in:
- Protein & Cell, 2018, v. 9, n. 9, p. 814, doi. 10.1007/s13238-018-0568-x
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- Publication type:
- Article
Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor.
- Published in:
- SCIENCE CHINA Life Sciences, 2022, v. 65, n. 4, p. 718, doi. 10.1007/s11427-020-1744-6
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- Publication type:
- Article
Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry.
- Published in:
- Journal of Clinical Laboratory Analysis, 2015, v. 29, n. 2, p. 162, doi. 10.1002/jcla.21745
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- Publication type:
- Article
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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1822
- By:
- Publication type:
- Article
Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.945
- By:
- Publication type:
- Article
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1062715
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- Publication type:
- Article
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01010-4
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- Publication type:
- Article
D‐mannitol‐based eutectic composite phase change materials with high thermal conductivity and solar‐thermal conversion.
- Published in:
- International Journal of Energy Research, 2022, v. 46, n. 11, p. 15722, doi. 10.1002/er.8271
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- Publication type:
- Article
Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022951
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- Publication type:
- Article
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02656-y
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- Publication type:
- Article
Fetal genetically determined birth weight plays a causal role in earlier puberty timing: evidence from human genetic studies.
- Published in:
- Human Reproduction, 2024, v. 39, n. 4, p. 792, doi. 10.1093/humrep/deae019
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- Publication type:
- Article
Dynamic functional connectivity analysis of Taichong (LR3) acupuncture effects in various brain regions.
- Published in:
- Neural Regeneration Research, 2012, v. 7, n. 6, p. 451, doi. 10.3969/j.issn.1673-5374.2012.06.008
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- Publication type:
- Article
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491
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- Publication type:
- Article
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 49, n. 1, p. 295, doi. 10.1159/000492879
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- Publication type:
- Article
Assessment of the Diagnostic Value of Plasma Levels, Activities, and Their Ratios of von Willebrand Factor and ADAMTS13 in Patients with Cerebral Infarction.
- Published in:
- Clinical & Applied Thrombosis/Hemostasis, 2016, v. 22, n. 3, p. 252, doi. 10.1177/1076029615583347
- By:
- Publication type:
- Article
Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.702374
- By:
- Publication type:
- Article
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.577046
- By:
- Publication type:
- Article
Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00496
- By:
- Publication type:
- Article
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 71, doi. 10.1159/000526320
- By:
- Publication type:
- Article
Rapid detection of glycogen storage disease type Ia by DNA microarray.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 9, p. 1229, doi. 10.1515/CCLM.2010.244
- By:
- Publication type:
- Article
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0368-4
- By:
- Publication type:
- Article
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 107, doi. 10.1002/ajmg.a.38542
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- Publication type:
- Article
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1347, doi. 10.1002/ajmg.a.37590
- By:
- Publication type:
- Article
Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 515, doi. 10.1002/ajmg.a.37454
- By:
- Publication type:
- Article
De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2327, doi. 10.1002/ajmg.a.37179
- By:
- Publication type:
- Article
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2300, doi. 10.1002/ajmg.a.37147
- By:
- Publication type:
- Article
Diagnosis of Niemann-Pick disease type C with 7- ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-82
- By:
- Publication type:
- Article
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-15
- By:
- Publication type:
- Article