O. P. V. Diggelen

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

J. D. de Klerk, E. van Beurden, R. Berger, 1997, American journal of human genetics.

Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.

H. Waterham, J. Bierau, L. Dorland, 2011, Molecular genetics and metabolism.

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

M. Durán, E. Bakker, B. Poll-The, 1997, American journal of medical genetics.

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

C. Wouters, O. P. V. Diggelen, D. Lindhout, 1999, American journal of medical genetics.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

H. Mandel, A. Reuser, D. Bali, 2008, Molecular genetics and metabolism.