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Crystal structure of 3-(thiazol-2-ylcarbamoyl)-7-oxabicyclo[2.2.1]heptane-2-carboxylic acid, C11H12N2O4S

Zeitschrift für Kristallographie. New crystal structures, 2023-08, Vol.238 (4), p.653-654

2023

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Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Journal of human genetics, 2019-04, Vol.64 (4), p.305-312

2019

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Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency

BMC pediatrics, 2024-08, Vol.24 (1), p.539-9

2024

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Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

PloS one, 2022-03, Vol.17 (3), p.e0265766-e0265766

2022

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Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.135-135, Article 135

2022

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Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.159-159, Article 159

2024

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Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-330, Article 330

2022

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Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

BMC medical genomics, 2024-06, Vol.17 (1), p.1-10

2024

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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.200-200, Article 200

2020

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Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Pediatrics international, 2019-06, Vol.61 (6), p.551-557

2019

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The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases

Frontiers in nutrition (Lausanne), 2024-06, Vol.11, p.1414681

2024

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Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

Kidney & blood pressure research, 2019-08, Vol.44 (4), p.743-753

2019

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Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

Brain & development (Tokyo. 1979), 2014-10, Vol.36 (9), p.813-822

2014

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Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies

Brain & development (Tokyo. 1979), 2015-11, Vol.37 (10), p.952-959

2015

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Mutations of MACF1 , Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Frontiers in neurology, 2020-01, Vol.10, p.1335

2020

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Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

Brain & development (Tokyo. 1979), 2016-01, Vol.38 (1), p.61-67

2016

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First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.286-291

2015

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Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

Frontiers in pediatrics, 2020-03, Vol.8, p.98-98

2020

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Crystal structure of 3-(thiazol-2-ylcarbamoyl)-7-oxabicyclo[2.2.1]heptane-2-carboxylic acid, C 11 H 12 N 2 O 4 S

Zeitschrift für Kristallographie. New crystal structures, 2023-08, Vol.238 (4), p.653-654

2023

Volltextzugriff (PDF)

Visible-Light-Promoted Direct C3‑H Cyanomethylation of 2H‑Indazoles

ACS omega, 2023-03, Vol.8 (12), p.11192-11200

2023

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Visible-Light-Promoted Direct C3-H Cyanomethylation of 2 H -Indazoles

ACS omega, 2023-03, Vol.8 (12), p.11192-11200

2023

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Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

Clinica chimica acta, 2019-11, Vol.498, p.116-121

2019

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A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.409-423

2020

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Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants

European journal of medical genetics, 2019-09, Vol.62 (9), p.103542-103542, Article 103542

2019

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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency

Neurology, 2020-12, Vol.95 (23), p.e3129

2020

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Crystal structure of 3-(thiazol-2-ylcarbamoyl)-7-oxabicyclo[2.2.1]heptane-2-carboxylic acid, C11H12N2O4S

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases

Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies

Mutations of MACF1 , Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type

Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

Crystal structure of 3-(thiazol-2-ylcarbamoyl)-7-oxabicyclo[2.2.1]heptane-2-carboxylic acid, C 11 H 12 N 2 O 4 S

Visible-Light-Promoted Direct C3‑H Cyanomethylation of 2H‑Indazoles

Visible-Light-Promoted Direct C3-H Cyanomethylation of 2 H -Indazoles

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency

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