Concepedia

Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder

Maya Bhat, Parayil Sankaran Bindu, Rita Christopher, Chandrajit Prasad, Abha Verma

Metabolic Brain Disease · 2015 · 20 citations · 6 references

DOI

Concepts

References

6

Phenotypic variation in biotinidase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · The Journal of Pediatrics · 1983 · 196 citations

, , +13

Worldwide survey of neonatal screening for biotinidase deficiency

Barry Wolf · Journal of Inherited Metabolic Disease · 1991 · 182 citations

, , +16

Delayed-onset profound biotinidase deficiency

Barry Wolf, Robert J. Pomponio, Karen J. Norrgard et al. · The Journal of Pediatrics · 1998 · 84 citations

, , +10

Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients

Shrinivas Desai, Karthik Ganesan, Anaita Hegde · Pediatric Radiology · 2008 · 59 citations

, , +12

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin‐responsive disorder

James E. Sander, Nathan Malamud, Morton J. Cowan et al. · Annals of Neurology · 1980 · 55 citations

, , +17