Anupam Chakrapani

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 270 citations · Full text

Life Sciences, Internal Medicine, Clinical Biochemistry +9

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

Life Sciences, Nephrology, Urology +14

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

Life Sciences, Biochemistry, Nephrology +12

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 109 citations

Life Sciences, Genetics, Molecular Genetics +15

Metabolic stroke in methylmalonic acidemia five years after liver transplantation

Anupam Chakrapani, P. Sivakumar, P. J. McKiernan et al. · The Journal of Pediatrics · 2002 · 105 citations

Medicine, Neurology, Surgery +13