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First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolera确定无疑 发表于 2025-3-30 12:43:29
Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease,interior 发表于 2025-3-30 20:37:23
Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance,AMEND 发表于 2025-3-30 22:56:45
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Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?,Archipelago 发表于 2025-3-31 09:41:45
Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Norinflame 发表于 2025-3-31 17:09:14
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Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Arginin社团 发表于 2025-4-1 01:17:55
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene,