Titlebook: JIMD Reports - Case and Research Reports, 2012/3; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

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Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome,low for infant growth, while preventing toxicity, is challenging, particularly for those women who no longer follow the PKU diet. Gastrostomy tube placement is an option to deliver medical formula to women who are unable to restart diet due to severe nausea or palatability issues..Here we discuss tw

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偶像

Carcinoma

Frequency

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations,defect. Sequence analysis of the PEX2 gene identified two heterozygous mutations. The clinical phenotype of our patient differs from previously reported ZSD patients with PEX2 gene mutations and suggests that genetic screening of PEX2 is warranted in children and adults with otherwise unexplained au

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荨麻

Mutation Profile of the , Gene in Chinese Methylmalonic Aciduria Patients,A and c.1084-10A>G), and one major deletion. Among the mutations identified, the c.1280G>A (15.5%), c.729_730insTT (10.7%), c.1106G>A (4.8%), c.1630_1631GG>TA (4.8%), and c.2080C>T (4.8%) accounted for 40% of the diseased alleles. The c.1280G>A and c.729_730insTT mutations were found to be the most

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MUT