Juan Bernar

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.

Isa Bernardini, William B. Rizzo, Marinos C. Dalakas et al. · Journal of Clinical Investigation · 1985 · 118 citations · Full text

Medicine, Nephrology, Pediatrics +10

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Harold N. Bass, R S Sparkes, M M Lessner et al. · Journal of Medical Genetics · 1985 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells.

Juan Bernar, Frank Tietze, Leonard D. Kohn et al. · Journal of Biological Chemistry · 1986 · 59 citations · Full text

Life Sciences, Biochemistry, Cell Biology +16

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.

William A. Gahl, Isa Bernardini, Marinos C. Dalakas et al. · Journal of Clinical Investigation · 1988 · 51 citations · Full text

Medicine, Pediatrics, Pharmacology +12

MRI Findings and Peripheral Neuropathy in Lowe's Syndrome

Lawrence Charnas, Juan Bernar, G. Pezeshkpour et al. · Neuropediatrics · 1988 · 40 citations

Medicine, Neurology, Neuroscience +17