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Article

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

Pediatrics - 1 Oct 2016

Teoh Hooi Ling, Solyom Alexander, Schuchman Edward H, Mowat David, Roscioli Tony, Farrar Michelle, Sampaio Hugo

Abstract excerpt

Survival of motor neuron 1-------negative spinal muscular atrophy (SMA) is heterogeneous and remains a diagnostic challenge. The clinical spectrum continues to expand and ∼33 genes have been identified to date. The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27650050
DOI: 10.1542/peds.2016-1068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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