官方服务：
资源简介：
Hyperphenylalaninemia classification.
应用场景：
创建时间：
2021-04-06
相关数据集
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.
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
Table_1_Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.DOCX
Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-e
NIAID Data Ecosystem30
Additional file of Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Additional file of Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Figshare2020-12-03 更新20
Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia
Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia
Global Health Data Exchange ()40
Supplementary Table 1: Aromatic L-amino acid decarboxylase deficiency: a systematic review
Supplemental Table 1: Natural history database reference list
NIAID Data Ecosystem30
