3 results match your criteria vks initiated

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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

J Inherit Metab Dis 2021 Jan 1;44(1):178-192. Epub 2020 Dec 1.

Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. Read More

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January 2021

Defining best practices for tissue procurement in immuno-oncology clinical trials: consensus statement from the Society for Immunotherapy of Cancer Surgery Committee.

J Immunother Cancer 2020 11;8(2)

Department of Surgical Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA

Immunotherapy is now a cornerstone for cancer treatment, and much attention has been placed on the identification of prognostic and predictive biomarkers. The success of biomarker development is dependent on accurate and timely collection of biospecimens and high-quality processing, storage and shipping. Tumors are also increasingly used as source material for the generation of therapeutic T cells. Read More

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November 2020

Clinical pathways for inborn errors of metabolism: warranted and feasible.

Orphanet J Rare Dis 2013 Feb 25;8:37. Epub 2013 Feb 25.

Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve communication. In 2010 the Dutch Society for Children and Adults with an Inborn Error of Metabolism (VKS) initiated development of clinical pathways for inborn errors of metabolism. Read More

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February 2013
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