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Expert consensus for the diagnosis and treatment of glutaricacidemia type 1

Zhonghua yi xue yi chuan xue za zhi, 2021-01, Vol.38 (1), p.1

2021

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Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases

Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2017-10, Vol.49 (5), p.768

2017

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Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2017-05, Vol.46 (3), p.233-239

2017

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Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review

Zhongguo dang dai er ke za zhi, 2018-08, Vol.20 (8), p.647-651

2018

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Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China

Zhonghua er ke za zhi, 2018-06, Vol.56 (6), p.414

2018

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Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening

Zhonghua er ke za zhi, 2016-12, Vol.54 (12), p.927

2016

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Mutation analysis for a methylmalonic acidemia pedigree without proband by high-throughput sequencing

Zhonghua yi xue yi chuan xue za zhi, 2018-06, Vol.35 (3), p.397

2018

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Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening

Zhonghua yi xue yi chuan xue za zhi, 2023-02, Vol.40 (2), p.155

2023

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Expanded newborn screening in the Region of Murcia, Spain. Three-years experience

Medicina clinica, 2012-12, Vol.139 (13), p.566

2012

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Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

Zhonghua er ke za zhi, 2016-05, Vol.54 (5), p.365

2016

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Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1

Zhongguo dang dai er ke za zhi, 2016-05, Vol.18 (5), p.460-465

2016

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Diagnosis and treatment of isolated methylmalonic acidemia

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.589

2013

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Clinical and laboratory studies on 28 patients with glutaric aciduria type 1

Zhonghua er ke za zhi, 2014-06, Vol.52 (6), p.415

2014

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Mutation analysis of GCDH gene in four patients with glutaric academia type I

Zhonghua yi xue yi chuan xue za zhi, 2015-04, Vol.32 (2), p.187

2015

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Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria

Zhonghua er ke za zhi, 2012-06, Vol.50 (6), p.410

2012

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Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC

Zhonghua er ke za zhi, 2013-04, Vol.51 (4), p.313

2013

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Genetic analysis of 21 cases of methylmalonic acidemia

Zhonghua yi xue yi chuan xue za zhi, 2022-04, Vol.39 (4), p.362

2022

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Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I

Zhonghua yi xue yi chuan xue za zhi, 2014-10, Vol.31 (5), p.608

2014

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Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2023-02, Vol.40 (2), p.177

2023

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Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2013-08, Vol.30 (4), p.389

2013

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Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I

Zhonghua yi xue yi chuan xue za zhi, 2012-12, Vol.29 (6), p.642

2012

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A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death

Zhonghua er ke za zhi, 2014-05, Vol.52 (5), p.397

2014

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Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment

Zhonghua er ke za zhi, 2013-03, Vol.51 (3), p.194

2013

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Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2020-10, Vol.49 (5), p.556-564

2020

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Progress of glutaric aciduria type I

Zhonghua er ke za zhi, 2012-12, Vol.50 (12), p.912

2012

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Expert consensus for the diagnosis and treatment of glutaricacidemia type 1

Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases

Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up

Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review

Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China

Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening

Mutation analysis for a methylmalonic acidemia pedigree without proband by high-throughput sequencing

Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening

Expanded newborn screening in the Region of Murcia, Spain. Three-years experience

Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1

Diagnosis and treatment of isolated methylmalonic acidemia

Clinical and laboratory studies on 28 patients with glutaric aciduria type 1

Mutation analysis of GCDH gene in four patients with glutaric academia type I

Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria

Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC

Genetic analysis of 21 cases of methylmalonic acidemia

Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I

Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency

Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency

Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I

A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death

Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment

Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province

Progress of glutaric aciduria type I

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