Linhua Zhang

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

W. Sly, C. Ross, W. Wasserman, 2014, American journal of human genetics.

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

R. Rodenburg, P. Myllynen, C. V. van Karnebeek, 2017, Molecular genetics and metabolism.

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

C. Ross, W. Wasserman, R. Rodenburg, 2016, Molecular genetics and metabolism.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

F. Alkuraya, M. Tarailo-Graovac, C. V. van Karnebeek, 2016, Molecular genetics and metabolism.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

P. Pavlidis, C. Ross, W. Wasserman, 2016, Molecular genetics and metabolism.