Disease: Homocarnosinosis
- A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry
- Carnosinase and homocarnosinosis
- Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency
- Clinical aspects of the disorders of GABA metabolism in children
- 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: hypercarnosinuria
- Homocarnosinosis: increased content of homocarnosine and deficiency of homocarnosinase in brain
- Homocarnosinosis: influence of dietary restriction of histidine
- Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine
- Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation
- Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia
- Homocarnosinosis. Symposium in honor of James F. Lenney
- Inherited disorders of GABA metabolism
- Inherited disorders of GABA metabolism
- Letter: Homocarnosinosis: a new metabolic disorder associated with spasticity and mental retardation
- 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