Louisa Adams

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

A. V. van Kuilenburg, N. Laing, M. Delatycki, 2022, Molecular genetics and metabolism.

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Beryl B. Cummings, H. Hakonarson, Yiran Guo, 2019, Molecular Genetics and Metabolism.

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

Intronic variants in inborn errors of metabolism: Beyond the exome

K. Bhattacharya, G. Ho, B. Bennetts, 2022, Frontiers in Genetics.

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

In a child presenting with features consistent with a diagnosis of juvenile idiopathic arthritis, what clinical features or laboratory findings (at presentation) predict a diagnosis of acute lymphoblastic leukaemia?

D. Singh-Grewal, D. McKay, G. Ostring, 2010, Journal of paediatrics and child health.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

T. Dalkeith, M. Farrar, C. Ellaway, 2023, JIMD reports.