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Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemiaROBINSON, B. H; MCKAY, N; GOODYER, P et al.American journal of human genetics. 1985, Vol 37, Num 5, pp 938-946, issn 0002-9297Article

Mutations in the gene encoding B1 subunit of H⁺-ATPase cause renal tubular acidosis with sensorineural deafnessKARET, F. E; FINBERG, K. E; HOFFBRAND, B. I et al.Nature genetics. 1999, Vol 21, Num 1, pp 84-90, issn 1061-4036Article

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Ontogeny modifies manifestations of cystinuria genes: implications for counselingSCRIVER, C. R; CLOW, C. L; GOODYER, P et al.The Journal of pediatrics. 1985, Vol 106, Num 3, pp 411-416, issn 0022-3476Article