Recommendations on the diagnosis and management of Niemann-Pick disease type C

J. E. Wraith, Matthias R. Baumgartner, Bruno Bembi, +7

Molecular Genetics and Metabolism

UrologyMedicineInherited Metabolic DiseaseDiagnosisPathology +2

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

Mario D. Cordero, Leonardo Salviati, Rafael Artuch, +6

Autophagy

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Marc C. Patterson, Eugen Mengel, Frits A. Wijburg, +5

Orphanet Journal of Rare Diseases

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, +10

The American Journal of Human Genetics

Reduced L-serine BiosynthesisMolecular CharacterizationAldehyde DehydrogenaseBiochemistryNatural Sciences +4

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Rafael Artuch, Gloria Brea‐Calvo, Paz Briones, +11

Journal of the Neurological Sciences

Coenzyme Q10 SupplementationNeurologyCerebellar AtaxiaNeuropathologyMedicine +1

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

Mercè Pineda, Javier Arpa, Raquel Montero, +12

European Journal of Paediatric Neurology

NeuroepidemiologyAdult PatientsPediatricsNeurologyMedicine +2

Rett syndrome in Spain: mutation analysis and clinical correlations

Eugènia Monrós, Judith Armstrong, Elena Aibar, +3

Brain and Development

Mendelian DisorderGenetic DisorderRett SyndromeGeneticsGenetic Epidemiology +2

Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status

Esther Cardo, Eugènia Monrós, Catrina Colomé, +4

Journal of Child Neurology

Genetic EpidemiologyHuman PolymorphismHyperlipidemiaMthfr GeneMetabolic Syndrome +19

Oxidative stress in Rett syndrome

Cristina Sierra, María Antònia Vilaseca, Núria Brandi, +4

Brain and Development

Reductive StressGeneticsPhysiologyReactive Oxygen SpecieMetabolism +3

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel A. Martı́n, +50

Mitochondrion

BiochemistryNatural SciencesInherited Metabolic DiseaseNon-oxphos DisordersMolecular Biology +6