Related references
Note: Only part of the references are listed.An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria
Abigail Liebow et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1
Chaitali Dutta et al.
MOLECULAR THERAPY (2016)
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I
Cristina Martin-Higueras et al.
MOLECULAR THERAPY (2016)
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan et al.
SCIENCE (2016)
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria
Oliver Clifford-Mobley et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2016)
The comparability of oxalate excretion and oxalate: creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre
Oliver Clifford-Mobley et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2015)
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Yaacov Frishberg et al.
JOURNAL OF MEDICAL GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia
Senthil Senniappan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Primary Hyperoxaluria
Pierre Cochat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Senthil Senniappan et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Active site and loop 4 movements within human glycolate oxidase: Implications for substrate specificity and drug design
Michael S. Murray et al.
BIOCHEMISTRY (2008)
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I
Emma Williams et al.
CLINICAL CHEMISTRY (2007)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Identification and expression of a cDNA for human glycolate oxidase
E Williams et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION (2000)