Background Both pathological and normal processes depend on proteins. In this study,
plasma protein profiles were analyzed by a novel proximity extension assay (PEA) to identify …

Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have
presented between day 2 of life and early childhood (up to age 20 months) with …

Abstract Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn
error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis …

Abstract Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which
are zinc metalloenzymes involved in the reversible hydration of CO2 to bicarbonate …

A series of benzoselenoates has been prepared and their inhibitory properties against the
most relevant human Carbonic Anhydrases (CAs) isoforms, among which hCA I, II, IV, VII, IX …

Abstract Carbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia
caused by biallelic mutations in CA5A. Most patients present with hyperammonemic …

Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-
threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting …

Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric
hyperammonaemia. Most published cases describe patients with only one episode of …

To the Editor: A 3-mo-old girl, previously well, presented with vomiting, lethargy for 1 d and
an episode of generalized seizures. There was no fever/loose stools. She is first born to non …

A girl of 19months presented to the emergency room with poor feeding and lethargy
following a viral febrile illness. Routine biochemistry testing detected plasma ammonia of …