Disease: Carnosinase deficiency
- A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency
- A fluorometric micromethod for estimation of carnosinase in dried blood samples
- A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry
- Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency
- Carnosine and Related Peptides: Therapeutic Potential in Age-Related Disorders
- Clinical aspects of the disorders of GABA metabolism in children
- Dual Effect of Carnosine on ROS Formation in Rat Cultured Cortical Astrocytes
- Homocarnosinosis patients and great apes have a serum protein that cross-reacts with human serum carnosinase
- Homocarnosinosis: A historical update and findings in the SPG11 gene
- Homocarnosinosis: influence of dietary restriction of histidine
- Impairment of electron transfer chain induced by acute carnosine administration in skeletal muscle of young rats
- Inborn errors of carnosine and homocarnosine metabolism
- Inherited disorders of GABA metabolism
- Inherited disorders of GABA metabolism
- Loss of CNDP causes a shorter lifespan and higher sensitivity to oxidative stress in Drosophila melanogaster
- Monoclonal Antibody RYSK173 Recognizes the Dinuclear Zn Center of Serum Carnosinase 1 (CN-1): Possible Consequences of Zn Binding for CN-1 Recognition by RYSK173
- Peculiarities of carnosine metabolism in a patient with pronounced homocarnosinemia
- Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders
- Serum carnosinase deficiency and homocarnosinosis
- Use of dynamic tests of muscle function and histomorphometry of quadriceps muscle biopsies in the investigation of patients with chronic alcohol misuse and chronic fatigue syndrome