Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

An early marker for neurological deficits after perinatal brain lesions

H.F.R. Prechtl, Christa Einspieler, Giovanni Cioni et al. · The Lancet · 1997 · 728 citations · Full text

Medicine, Neurology, Neuroscience +14

Intelligence and quality of dietary treatment in phenylketonuria.

I Smith, M G Beasley, A. E. Ades · Archives of Disease in Childhood · 1990 · 237 citations · Full text

Education, Child Health, Pediatrics +13

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Alice Masurel‐Paulet, Joséphine Poggi-Bach, M. O. Rolland et al. · Journal of Inherited Metabolic Disease · 2008 · 216 citations

Medicine, Hematology, Immunology +2

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Jean Larochelle, Fernando Álvarez, Jean‐François Bussières et al. · Molecular Genetics and Metabolism · 2012 · 139 citations

Medicine, Internal Medicine, Pharmacology +5

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text

Medicine, Internal Medicine, Nutrition +17