表状态
发表于 2025-3-23 13:42:34
Heike Gfrereistase (HLCS) deficiency and is regarded as being unresponsive to biotin. This report describes the presentation and outcome in two surviving siblings, homozygous for this highly lethal mutation... Both cases had perinatal head imaging findings of brain hemorrhage and subependymal cysts. Both had meta
Aids209
发表于 2025-3-23 16:36:17
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Dna262
发表于 2025-3-23 20:51:39
se previously reported to treat HLCS deficiency. To date, neither patient has required hospital readmission for acute metabolic decompensation. At the age of 7, the eldest child is, to our knowledge, the oldest patient ever described in the literature who is homozygous for the L216R mutation. She ha
micronutrients
发表于 2025-3-23 23:45:34
Heike Gfrereisse previously reported to treat HLCS deficiency. To date, neither patient has required hospital readmission for acute metabolic decompensation. At the age of 7, the eldest child is, to our knowledge, the oldest patient ever described in the literature who is homozygous for the L216R mutation. She ha
ARCHE
发表于 2025-3-24 03:50:24
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匍匐前进
发表于 2025-3-24 07:10:19
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AND
发表于 2025-3-24 14:03:04
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编辑才信任
发表于 2025-3-24 16:56:20
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GROUP
发表于 2025-3-24 19:00:20
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提升
发表于 2025-3-25 00:48:36
Heike Gfrereisse previously reported to treat HLCS deficiency. To date, neither patient has required hospital readmission for acute metabolic decompensation. At the age of 7, the eldest child is, to our knowledge, the oldest patient ever described in the literature who is homozygous for the L216R mutation. She ha