Jaak Jaeken

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 169 citations · Full text

Medicine, Radiology, Diagnostic Pathology +1

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Claire Hart, Valérie Race, Younès Achouri et al. · The American Journal of Human Genetics · 2007 · 132 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Leo W. J. Klomp, Tom J. de Koning, Helga E.M. Malingré et al. · The American Journal of Human Genetics · 2000 · 111 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 98 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Antonio Federico Martínez‐Monseny, Mercè Bolasell, Laura Callejón‐Póo et al. · Annals of Neurology · 2019 · 68 citations

Life Sciences, Neurology, Pharmacotherapy +16