Phenotypic variation in biotinidase deficiency.
Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL.
Wolf B, et al.
J Pediatr. 1983 Aug;103(2):233-7. doi: 10.1016/s0022-3476(83)80351-5.
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PMID: 6875714
In all of the reported probands, MCD was diagnosed because they had metabolic ketoacidosis and organic aciduria in addition to various neurologic and cutaneous symptoms, such as seizures, ataxia, skin rash, and alopecia. ...If the diagnosis cannot be excluded, such …
In all of the reported probands, MCD was diagnosed because they had metabolic ketoacidosis and organic aciduria in addition to …