预知
发表于 2025-3-28 18:36:33
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aristocracy
发表于 2025-3-28 21:02:37
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osteopath
发表于 2025-3-29 02:18:44
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to
眨眼
发表于 2025-3-29 06:20:31
The Spectrum of Niemann-Pick Type C Disease in Greece,id trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the . and the . genes. We present the clin
漂白
发表于 2025-3-29 10:47:00
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过滤
发表于 2025-3-29 14:36:58
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Flinch
发表于 2025-3-29 16:34:33
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假装是我
发表于 2025-3-29 23:13:58
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1, glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrom
decipher
发表于 2025-3-30 00:59:07
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protsorders (LSDs). However, “cross-correction” poses a significant barrier to studying the role of specific cell types in LSD pathogenesis. By expressing the native enzyme in only one cell type, neighboring cell types are invariably corrected. In this study, we present a strategy to limit “cross-correc
有恶意
发表于 2025-3-30 04:27:16
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semias a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims