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Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model

International journal of molecular sciences, 2024-09, Vol.25 (17), p.9712

2024

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Characterization of active transposable elements and their new insertions in tuber propagated greater yam (Dioscorea alata)

BMC genomics, 2024-09, Vol.25 (1), p.864-16

2024

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A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Heliyon, 2022-10, Vol.8 (10), p.e11071-e11071, Article e11071

2022

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Characteristics of Pompe disease in China: a report from the Pompe registry

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.78-78, Article 78

2019

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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.198-198, Article 198

2024

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AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 Gangliosidosis

Current gene therapy, 2022-01, Vol.22 (4), p.352-365

2022

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Possible Vicarious Traumatization Among Psychiatric Inpatients During the Remission Phase of the COVID-19: A Single-Center Cross-Sectional Study

Frontiers in psychiatry, 2021-08, Vol.12, p.677082-677082

2021

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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

BMC pediatrics, 2022-05, Vol.22 (1), p.267-267, Article 267

2022

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Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children

BMC gastroenterology, 2022-03, Vol.22 (1), p.124-124, Article 124

2022

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Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects

Journal of Chromatography A, 2013-12, Vol.1319, p.97-106

2013

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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

BMC pediatrics, 2019-11, Vol.19 (1), p.456-456, Article 456

2019

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Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

BMC musculoskeletal disorders, 2020-03, Vol.21 (1), p.154-154, Article 154

2020

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Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

International journal of neonatal screening, 2024-03, Vol.10 (2), p.28

2024

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Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

Journal of clinical research in pediatric endocrinology, 2017-03, Vol.9 (1), p.52-57

2017

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Converting large-scale waste paper fibers into lanthanum-modified cellulose carbon aerogel adsorbents for efficient phosphorus removal

Colloids and surfaces. A, Physicochemical and engineering aspects, 2025-01, Vol.704, p.135487, Article 135487

2025

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A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy

Experimental biology and medicine (Maywood, N.J.), 2021-06, Vol.246 (11), p.1330-1341

2021

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A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Clinica chimica acta, 2024-01, Vol.552, p.117653-117653, Article 117653

2024

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High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified

Clinica chimica acta, 2020-07, Vol.506, p.22-27

2020

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Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China

European journal of medical genetics, 2024-04, Vol.68, p.104933-104933, Article 104933

2024

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Rational construction of NaTi2(PO4)3@C nanocrystals embedded in graphene sheets as anode materials for Na-ion batteries

Ceramics international, 2017-10, Vol.43 (15), p.12915-12919

2017

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Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS

Clinical biochemistry, 2021-01, Vol.87, p.79-84

2021

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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

PloS one, 2024-10, Vol.19 (10), p.e0310517

2024

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The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling

Journal of Pediatric Endocrinology and Metabolism, 2019-11, Vol.32 (11), p.1253-1258

2019

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Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

Pediatric nephrology (Berlin, West), 2024-08, Vol.39 (8), p.2377-2391

2024

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China

Clinica chimica acta, 2019-08, Vol.495, p.476-480

2019

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Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model

Characterization of active transposable elements and their new insertions in tuber propagated greater yam (Dioscorea alata)

A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Characteristics of Pompe disease in China: a report from the Pompe registry

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 Gangliosidosis

Possible Vicarious Traumatization Among Psychiatric Inpatients During the Remission Phase of the COVID-19: A Single-Center Cross-Sectional Study

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children

Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

Converting large-scale waste paper fibers into lanthanum-modified cellulose carbon aerogel adsorbents for efficient phosphorus removal

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China

Rational construction of NaTi2(PO4)3@C nanocrystals embedded in graphene sheets as anode materials for Na-ion batteries

Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS

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

The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China

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