Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism

Sylvia Stöckler, U. Holzbach, F. Hanefeld et al. · Pediatric Research · 1994 · 418 citations

Life Sciences, Neurology, Neuroscience +10

Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

Johannes Häberle, Boris Görg, Frank Rutsch et al. · New England Journal of Medicine · 2005 · 211 citations

Medicine, Genetics, Molecular Genetics +17

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev et al. · Neuron · 2013 · 166 citations · Full text

Life Sciences, Neuroscience, Pediatrics +14

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Thomas Bourgeron, Dominique Chrétien, Jo Poggi-Bach et al. · Journal of Clinical Investigation · 1994 · 160 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

An update on serine deficiency disorders

Saskia N. van der Crabben, N. M. Verhoeven‐Duif, Eva H. Brilstra et al. · Journal of Inherited Metabolic Disease · 2013 · 124 citations · Full text

Life Sciences, Pathobiology, Human Genetics +8