… Awareness of the diverse clinical presentations associated with cblC disease is necessary
… clinical presentations, genotype-phenotype correlations, diagnosis and management of cblC …

… aciduria, one of the biomarkers of the cblC defect. Methylcobalamin is a co-factor for N5-…
of the cblC defect (Fowler 1998). Clinical presentation and severity of the cblC defect can vary …

… The focus of the present review is methylmalonic aciduria and homocystinuria, CblC type
(… Due to the variability of clinical presentation and age of onset, it may represent a diagnostic …

… Case 3 was followed up at another hospital, therefore we did not know his clinical
presentation nor the data of DQ. Case 4 suffered from bad fine motor skills, mental retardation, …

… We report five cases of late-onset cblC with a neuropsychiatric presentation. Our study … .
Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab …

… with late-onset cblC disease, we describe the clinical presentation and imaging of three
patients with late-onset combined methylmalonic aciduria and homocystinuria, cblC type, whose …

… cblC deficiency is the most common type of methylmalonic … the clinical features of patients
with late-onset cblC … However, there is not enough research on the clinical presentations, …

… (cbl) metabolism in China is the cblC type characterized by combined methylmalonic
acidemia and hyperhomocysteinemia. The clinical presentation is relatively nonspecific, such as …

… response and general outcome; iii) illustrate the types of clinical presentation; iv) discuss
ways to diagnosis and highlight clinical signs which should prompt the consideration of inborn …

… clinical presentations, gene mutations, and treatments of Chinese patients with late-onset
cblC … Citation4 cblC disease is the most common type of cobalamin metabolic defect with the …