归功于 发表于 2025-3-26 23:26:24
Book 2015JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.V洗浴 发表于 2025-3-27 03:52:46
https://doi.org/10.1007/978-3-662-46700-8Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metaboliccocoon 发表于 2025-3-27 06:34:36
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JIMD Reports, Volume 20978-3-662-46700-8Series ISSN 2192-8304 Series E-ISSN 2192-8312Modicum 发表于 2025-3-27 15:26:25
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Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of ts. Despite early diagnosis and treatment, the disease still has a high mortality rate...: Clinical symptoms, long-term follow-up, and biochemical and molecular results of four cases are described and compared with the reviewed literature data of 55 cases...: Two cases with neonatal onset, carrying i一夫一妻制 发表于 2025-3-28 04:52:13
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