Anil Jalan

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

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Monique van Scherpenzeel, Sharita Timal, Daisy Rymen et al. · Brain · 2014 · 53 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú et al. · Epilepsia · 2013 · 48 citations · Full text

Medicine, Neurology, Pharmacology +16

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Sunita Bijarnia‐Mahay, Johannes Häberle, Anil Jalan et al. · Orphanet Journal of Rare Diseases · 2018 · 33 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17