angiography
发表于 2025-3-26 22:30:56
https://doi.org/10.1007/978-3-662-52847-1inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic
Anguish
发表于 2025-3-27 04:36:59
978-3-662-52846-4SSIEM and Springer-Verlag Berlin Heidelberg 2016
大包裹
发表于 2025-3-27 07:41:11
JIMD Reports, Volume 28978-3-662-52847-1Series ISSN 2192-8304 Series E-ISSN 2192-8312
certitude
发表于 2025-3-27 09:45:08
Eva Morava,Matthias Baumgartner,Verena PetersUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed
Radiculopathy
发表于 2025-3-27 16:05:49
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2否定
发表于 2025-3-27 21:33:24
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Defici0.9 ppm, originating from the distal methyl group. We review the literature on the different genetic conditions that have been found to show lipid peaks on brain spectroscopy and report the first patient with carnitine palmitoyltransferase 2 deficiency shown to have such lipid peaks, thus indicating brain fat accumulation.
罐里有戒指
发表于 2025-3-28 00:26:27
Multiple, Successful Pregnancies in Pompe Disease,scribe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.
MEAN
发表于 2025-3-28 04:36:45
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parasite
发表于 2025-3-28 07:25:02
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Eulogy
发表于 2025-3-28 11:48:14
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