Characteristics of patients with X-linked hypophosphatemia (XLH).

NIAID Data Ecosystem2026-05-02 收录

数据链接：

https://figshare.com/articles/dataset/Characteristics_of_patients_with_X-linked_hypophosphatemia_XLH_/26382440 数据链接链接失效反馈

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资源简介：

Characteristics of patients with X-linked hypophosphatemia (XLH).

创建时间：

2024-07-26

[Neonatal icterus and erythrocyte glucose-6-phosphate dehydrogenase deficiency in Congolese newborn infants in Brazzaville]

新生儿健康

遗传代谢疾病

[Neonatal icterus and erythrocyte glucose-6-phosphate dehydrogenase deficiency in Congolese newborn infants in Brazzaville]

Global Health Data Exchange ()80

Isolation and structural characterization of sialic-acid-containing glycopeptides of the O-glycosidic type from the urine of two patients with an hereditary deficiency in alpha-N-acetylgalactosaminidase activity.

糖脂结构表征

遗传代谢疾病

GlycoSuiteDB is a curated database of carbohydrate (glycan) structures sourced from published material. This entry corresponds to a catologue of structures reported in the publication - Isolation and

Research Data Australia50

Genetic-epigenetic interactions in paternal transgenerational inheritance of metabolic disorders. Genetic-epigenetic interactions in paternal transgenerational inheritance of metabolic disorders

遗传代谢疾病

精子表观遗传修饰

Parental environmental exposures can strongly influence descendant risks for adult disease. Metabolic disorders arise from the intersection of environmental and genetic risk factors, with epigenetic i

NIAID Data Ecosystem30

Table_2_Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.xlsx

遗传代谢疾病

线粒体呼吸链

Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by var

NIAID Data Ecosystem50

Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia

新生儿筛查

遗传代谢疾病

Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia

Global Health Data Exchange ()40