Related Experiment Videos
Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism
1Department of Dermatology, Seoul National University School of Medicine, Korea.
Journal of Inherited Metabolic Disease
|January 1, 1994
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Antioxidant defense mechanisms and its dysfunctional regulation in the mitochondrial disease, Friedreich's ataxia.
Free radical biology & medicine·2020
Diagnostic value of bronchoalveolar lavage and bronchial washing in sputum-scarce or smear-negative cases with suspected pulmonary tuberculosis: a randomized study.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2019
Predictors of responses to immune checkpoint blockade in advanced melanoma.
Nature communications·2017
Changes of cortical activation in swallowing following high frequency repetitive transcranial magnetic stimulation in older adults.
Neurogastroenterology and motility·2017
Evaluating augmentation with calcium phosphate cement (chronOS Inject) for bone defects after internal fixation of proximal tibial fractures: A prospective, multicenter, observational study.
Orthopaedics & traumatology, surgery & research : OTSR·2016
Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.
Journal of inherited metabolic disease·2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.
Journal of inherited metabolic disease·2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.
Journal of inherited metabolic disease·2026
Genome Editing for Glycogen Storage Diseases.
Journal of inherited metabolic disease·2026
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Journal of inherited metabolic disease·2026
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Journal of inherited metabolic disease·2026
Case Report: A case of acute kidney injury due to star fruit-infused liquor.
Frontiers in medicine·2026
Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.
Frontiers in medicine·2026
[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].
Annales de pathologie·2026