Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria

(2016) Abigail Liebow et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1

(2016) Chaitali Dutta et al.   MOLECULAR THERAPY

Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I

(2016) Cristina Martin-Higueras et al.   MOLECULAR THERAPY

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria

(2016) Oliver Clifford-Mobley et al.   ANNALS OF CLINICAL BIOCHEMISTRY

The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre

(2015) Oliver Clifford-Mobley et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Mutations inHAO1encoding glycolate oxidase cause isolated glycolic aciduria

(2014) Yaacov Frishberg et al.   JOURNAL OF MEDICAL GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia

(2014) Senthil Senniappan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary Hyperoxaluria

(2013) Pierre Cochat et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

(2012) Senthil Senniappan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Active Site and Loop 4 Movements within Human Glycolate Oxidase:  Implications for Substrate Specificity and Drug Design†

(2008) Michael S. Murray et al.   BIOCHEMISTRY