Titlebook: JIMD Reports - Case and Research Reports, 2011/1; SSIEM Book 2011 SSIEM and Springer-Verlag Berlin Heidelberg 2011 endocrinology.inherited

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First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolera

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Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease,

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Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance,

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BRINK

Traumatic-Grief

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?,

Archipelago

Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Nor

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辯論

Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Arginin

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Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene,