Suchergebnisse - "Liang, Cuili"

1

Geneotype and phenotype in 20 patients with glycogen storage disease type Ia

von: Liang, Cuili

2013, in: International journal of pediatric endocrinology

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2

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

von: Peng, Minzhi

2013, in: Defense development: The role of co-creation in filling the gap between policy-makers and technology development

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3

First case report of short-chain acyl-CoA dehydrogenase deficiency in China

von: Jiang, MinYan

2013, in: International journal of pediatric endocrinology

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4

Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization

von: Peng, Minzhi

2013, in: Brain microstructure and morphology of very preterm-born infants at term equivalent age: Associations with motor and cognitive outcomes at 1 and 2 years

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5

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets

von: Lin, Yunting

2021, in: Calcified tissue international

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6

First case report of short-chain acyl-CoA dehydrogenase deficiency in China

von: Jiang, MinYan

2012, in: The journal of pediatric endocrinology and metabolism

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7

Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China

von: Xu, Aijing

2022, in: Diabetology & metabolic syndrome

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8

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

von: Li, Taolin

2024, in: Metabolic brain disease

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9

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

von: Du, Rong

2024, in: Pediatric nephrology

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