Clara van Karnebeek | Drögemöller Lab

Latest

Secondary biogenic amine deficiencies: Genetic etiology, therapeutic interventions and clinical effects
Adult GAMT deficiency: A literature review and report of two siblings
Atypical cerebral palsy: genomics analysis enables precision medicine
Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
Glutaminase deficiency caused by short tandem repeat expansion in GLS
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Mitochondrial complex III deficiency with ketoacidosis and hyperglycemia mimicking neonatal diabetes
Further validation of the SIGMAR1 c.151+1G>T mutation as cause of distal hereditary motor neuropathy
Exome sequencing and the management of neurometabolic disorders
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis