Related Experiment Videos
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity
J A Smeitink1, F A Beemer, M Espeel
1University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Journal of Inherited Metabolic Disease
|January 1, 1992
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2015
Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.
Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca·2014
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
Journal of inherited metabolic disease·2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
Journal of medical genetics·2013
D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.
Plant biology (Stuttgart, Germany)·2013
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.
Journal of inherited metabolic disease·2026
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.
Journal of inherited metabolic disease·2026
Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.
Journal of inherited metabolic disease·2026
Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.
Journal of inherited metabolic disease·2026
International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).
Journal of inherited metabolic disease·2026
AAPM-HPS medical physics practice guideline 16.a: medical health physics scope of practice.
Journal of applied clinical medical physics·2026
Diagnostic accuracy of 18F-PSMA-1007 PET/CT and bone scintigraphy for detecting bone metastases in prostate cancer.
Japanese journal of radiology·2026
Beyond correlation and causation: epistemic caution, anomalous findings, and COVID-19 vaccine safety.
Philosophy, ethics, and humanities in medicine : PEHM·2026