frugal
发表于 2025-3-28 18:39:51
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自由职业者
发表于 2025-3-28 22:27:03
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Congruous
发表于 2025-3-29 02:33:41
Reinhard Rackedinoacetate methyltransferase (GAMT) (MIM 601240) deficiencies), and transport (MIM 300036) deficiency. CDS typically present with cerebral creatine deficiency and global developmental delay/ intellectual disability along with various neurological manifesta
airborne
发表于 2025-3-29 06:22:04
Reinhard Rackeecific expression and substrate specificity of the affected transporter (Box). SGLT1 deficiency causes intestinal ., a condition that presents with severe osmotic diarrhoea and dehydration soon after birth. . mutations result in isolated . a harmless renal transport defect characterised by normal bl
无王时期,
发表于 2025-3-29 08:37:19
Reinhard Rackes are mainly characterized by haemolytic anaemia and/or metabolic myopathy. Ten inborn errors of the glycolytic pathway are known, all inherited as an autosomal-recessive trait except the X-linked Phospho-Glycerate-Kinase and Glycerol kinase deficiencies. Hexokinase (HK), glucose-6-phosphate isomera
CHIDE
发表于 2025-3-29 11:59:17
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Reverie
发表于 2025-3-29 15:39:41
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小争吵
发表于 2025-3-29 23:02:56
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Corporeal
发表于 2025-3-30 00:28:34
Reinhard Racke are frequent. As a whole, they can not be recognized through systematic neonatal screening tests, which are too slow, too expensive, or unreliable. This makes it an absolute necessity to teach primary care physicians a simple method of clinical screening before deciding to initiate sophisticated bi
恶意
发表于 2025-3-30 06:15:54
Reinhard Rackee the rule rather than the exception with these diverse syndromes. The clinical syndromes may present predominantly as encephalopathies, myopathies, or encephalomyopathies. The biochemical deficiency may be complete with no detectable cross-reacting material (CRM) by immunoblot techniques, or the de