Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease
ABSTRACT Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life‐threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin‐dependent carboxylase activity. We report the presentation of a Polynesian neonate with severe metabolic acidosis secondary to holocarboxylase ...
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Nutrition-modulated, subtype-specific risk factors for catheter-related bloodstream infections in hospitalized patients with intestinal failure. [PDF]
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Amino acids and lean mass accretion in preterm neonates. [PDF]
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Risk factors of ventilator-associated pneumonia in patients with acute exacerbation of chronic obstructive pulmonary disease: a meta-analysis and systematic review. [PDF]
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