Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek, +11

PEDIATRICS

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

G. F. Hoffmann, S. Athanassopoulos, A Burlina, +12

Neuropediatrics

<scp>L</scp>‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

P. G. Barth, Georg F. Hoffmann, J. Jaeken, +9

Annals of Neurology

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs, +23

PEDIATRICS

Propionic acidaemia: clinical, biochemical and therapeutic aspects

W. Lehnert, Wolfgang Sperl, Terttu Suormala, +1

European Journal of Pediatrics

Electrolyte DisorderPropionic AcidaemiaMedicinePhysiologyGastroenterology +6

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, +8

The American Journal of Human Genetics

Aldehyde DehydrogenaseMendelian DisorderBiochemistryGenetic DisorderNatural Sciences +9

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Christina B. Pedersen, Steen Kølvraa, Agnete Kølvraa, +17

Human Genetics

Mendelian DisorderMissense VariationsGenetic DisorderMedicineGenetics +10

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Sarah C. Grünert, U. Wendel, Martin Lindner, +5

Orphanet Journal of Rare Diseases

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

Morten J. Corydon, N. Gregersen, W. Lehnert, +13

Pediatric Research

Aldo-keto ReductaseAldehyde DehydrogenaseBiochemistryMedicineGenetics +8

Glutaryl-Coenzyme A Dehydrogenase Deficiency: A Distinct Encephalopathy

Georg F. Hoffmann, Friedrich K. Trefz, P. G. Barth, +17

PEDIATRICS

Severe Secondary DeficiencyCorticobasal DegenerationNeurological DisorderOxidative StressBrain Injury +17