William G. van’t Hoff
Université Claude Bernard Lyon 1(FR)Inserm(FR)Great Ormond Street Hospital(GB)University College London(GB)University of Amsterdam(NL)
Publications by Year
Research Areas
Biomedical Research and Pathophysiology, Neonatal Health and Biochemistry, Kidney Stones and Urolithiasis Treatments, Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1(2021)476 cited
- → Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease(2009)291 cited
- → Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease(2001)284 cited
- → Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation(2003)158 cited
- → Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy(2004)104 cited
- → Clinical and molecular aspects of distal renal tubular acidosis in children(2017)102 cited