Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures,…
In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases.…
OBJECTIVE: We aimed to assess Child Death Overview Panel (CDOP) data validity, and cause of death classification, by comparison with information from a local birth cohort study (Born in Bradford, BiB), and another cause of death coding system (causes…
