Gill Rumsby

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Pierre Cochat, Sally A. Hulton, Cécile Acquaviva et al. · Nephrology Dialysis Transplantation · 2012 · 330 citations · Full text

Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

D. J. Hoimes‐Walker, Gerard S. Conway, John W. Honour et al. · Clinical Endocrinology · 1995 · 131 citations

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

Giorgia Mandrile, Christiaan S. van Woerden, Paola Berchialla et al. · Kidney International · 2014 · 130 citations · Full text

Large European Study, Allelic Variant, Primary Hyperoxaluria +13

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

David Cregeen, Emma L. Williams, Sally A. Hulton et al. · Human Mutation · 2003 · 124 citations · Full text

Functional Consequences of Seven Novel Mutations in the<i>CYP11B1</i>Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Silvia Parajes, Lourdes Loidi, Nicole Reisch et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 112 citations · Full text