Homocystinuria diagnosis and management: it is not all classical

Homocystinuria (HCU) refers to a group of inherited disorders of homocysteine metabolism associated with high blood homocysteine concentration, thromboembolic tendency and neurocognitive symptoms. The most common causes of a high blood homocysteine relate to underlying vitamin B12 or folate deficien...

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Veröffentlicht in:	Journal of clinical pathology 2022-11, Vol.75 (11), p.744-750
Hauptverfasser:	Gerrard, Adam, Dawson, Charlotte
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Best practice DNA methylation Enzymes Fibroblasts Folic Acid Genetic Diseases, Inborn Genetic disorders Homocysteine Kidney diseases Medical screening Metabolism Nitrous oxide Plasma Proteins Urine Vitamin B Vitamin B 12 Vitamin deficiency
Online-Zugang:	Volltext
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