Anupam Chakrapani

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

Pharmacy, Pharmacotherapy, Clinical Nutrition +6

SURF1 deficiency: a multi-centre natural history study

Yehani Wedatilake, Ruth M. Brown, Robert McFarland et al. · Orphanet Journal of Rare Diseases · 2013 · 135 citations · Full text

Life Sciences, Genetics, Pediatrics +15

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone, Robert W. Taylor, A. Nascimento et al. · Journal of Medical Genetics · 2018 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

Ritika R. Kapoor, Sarah E. Flanagan, Piers Fulton et al. · European Journal of Endocrinology · 2009 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Lars Schlotawa, Eva C. Ennemann, Karthikeyan Radhakrishnan et al. · European Journal of Human Genetics · 2011 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13