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- Arn P. H., Hauser E. R., Thomas G. H., Herman G., Hess D., Brusilow S. W. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med. 1990 Jun 7;322(23):1652–1655. doi: 10.1056/NEJM199006073222307. [DOI] [PubMed] [Google Scholar]
- Bartram C., Edwards R. H., Clague J., Beynon R. J. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet. 1993 Aug;2(8):1291–1293. doi: 10.1093/hmg/2.8.1291. [DOI] [PubMed] [Google Scholar]
- Baumann N., Masson M., Carreau V., Lefevre M., Herschkowitz N., Turpin J. C. Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. Dev Neurosci. 1991;13(4-5):211–215. doi: 10.1159/000112162. [DOI] [PubMed] [Google Scholar]
- Brown G. K., Otero L. J., LeGris M., Brown R. M. Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875–879. doi: 10.1136/jmg.31.11.875. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bruno C., Servidei S., Shanske S., Karpati G., Carpenter S., McKee D., Barohn R. J., Hirano M., Rifai Z., DiMauro S. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol. 1993 Jan;33(1):88–93. doi: 10.1002/ana.410330114. [DOI] [PubMed] [Google Scholar]
- Clemens P. R., Yamamoto M., Engel A. G. Adult phosphorylase b kinase deficiency. Ann Neurol. 1990 Oct;28(4):529–538. doi: 10.1002/ana.410280410. [DOI] [PubMed] [Google Scholar]
- Cruysberg J. R., Boers G. H., Trijbels J. M., Deutman A. F. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ. 1996 Oct 26;313(7064):1037–1040. doi: 10.1136/bmj.313.7064.1037. [DOI] [PMC free article] [PubMed] [Google Scholar]
- DiMagno E. P., Lowe J. E., Snodgrass P. J., Jones J. D. Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man. N Engl J Med. 1986 Sep 18;315(12):744–747. doi: 10.1056/NEJM198609183151207. [DOI] [PubMed] [Google Scholar]
- Dooley J. M., Wright B. A. Adrenoleukodystrophy mimicking multiple sclerosis. Can J Neurol Sci. 1985 Feb;12(1):73–74. doi: 10.1017/s0317167100046631. [DOI] [PubMed] [Google Scholar]
- Dotti M. T., Salen G., Federico A. Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing. Dev Neurosci. 1991;13(4-5):371–376. doi: 10.1159/000112187. [DOI] [PubMed] [Google Scholar]
- Elder G. H., Hift R. J., Meissner P. N. The acute porphyrias. Lancet. 1997 May 31;349(9065):1613–1617. doi: 10.1016/S0140-6736(96)09070-8. [DOI] [PubMed] [Google Scholar]
- Felice K. J., Alessi A. G., Grunnet M. L. Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature. Medicine (Baltimore) 1995 May;74(3):131–135. doi: 10.1097/00005792-199505000-00002. [DOI] [PubMed] [Google Scholar]
- Gollan J. L., Gollan T. J. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol. 1998;28 (Suppl 1):28–36. doi: 10.1016/s0168-8278(98)80373-5. [DOI] [PubMed] [Google Scholar]
- Grünfeld J. P., Niaudet P., Rötig A. Renal involvement in mitochondrial cytopathies. Nephrol Dial Transplant. 1996 May;11(5):760–761. doi: 10.1093/oxfordjournals.ndt.a027391. [DOI] [PubMed] [Google Scholar]
- Guenthard J., Wyler F., Fowler B., Baumgartner R. Cardiomyopathy in respiratory chain disorders. Arch Dis Child. 1995 Mar;72(3):223–226. doi: 10.1136/adc.72.3.223. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hardie R. J., Young E. P., Morgan-Hughes J. A. Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):446–447. doi: 10.1136/jnnp.51.3.446. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Harding A. E., Hammans S. R. Deletions of the mitochondrial genome. J Inherit Metab Dis. 1992;15(4):480–486. doi: 10.1007/BF01799606. [DOI] [PubMed] [Google Scholar]
- Hutchesson A., Preece M. A., Gray G., Green A. Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Clin Chem. 1997 Jan;43(1):158–161. [PubMed] [Google Scholar]
- Morris A. A., Taanman J. W., Blake J., Cooper J. M., Lake B. D., Malone M., Love S., Clayton P. T., Leonard J. V., Schapira A. H. Liver failure associated with mitochondrial DNA depletion. J Hepatol. 1998 Apr;28(4):556–563. doi: 10.1016/s0168-8278(98)80278-x. [DOI] [PubMed] [Google Scholar]
- Moser H. W. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain. 1997 Aug;120(Pt 8):1485–1508. doi: 10.1093/brain/120.8.1485. [DOI] [PubMed] [Google Scholar]
- Moses S. W. Muscle glycogenosis. J Inherit Metab Dis. 1990;13(4):452–465. doi: 10.1007/BF01799503. [DOI] [PubMed] [Google Scholar]
- Munnich A., Rötig A., Chretien D., Saudubray J. M., Cormier V., Rustin P. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr. 1996 Apr;155(4):262–274. doi: 10.1007/BF02002711. [DOI] [PubMed] [Google Scholar]
- Puig J. G., Torres R. J., Mateos F. A., Arcas J., Buño A., Pascual-Castroviejo I. The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families. Adv Exp Med Biol. 1998;431:25–29. [PubMed] [Google Scholar]
- Rowe P. C., Valle D., Brusilow S. W. Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern. JAMA. 1988 Dec 2;260(21):3167–3170. [PubMed] [Google Scholar]
- Sokol R. J. Expanding spectrum of mitochondrial disorders. J Pediatr. 1996 May;128(5 Pt 1):597–599. doi: 10.1016/s0022-3476(96)80121-1. [DOI] [PubMed] [Google Scholar]
- Tein I., De Vivo D. C., Ranucci D., DiMauro S. Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders. J Inherit Metab Dis. 1993;16(1):135–146. doi: 10.1007/BF00711327. [DOI] [PubMed] [Google Scholar]
- Thomas P. K., Young E., King R. H. Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry. 1989 Sep;52(9):1103–1106. doi: 10.1136/jnnp.52.9.1103. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tulinius M. H., Oldfors A., Holme E., Larsson N. G., Houshmand M., Fahleson P., Sigström L., Kristiansson B. Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions. Eur J Pediatr. 1995 Jan;154(1):35–42. doi: 10.1007/BF01972970. [DOI] [PubMed] [Google Scholar]
- Wanders R. J., Heymans H. S., Schutgens R. B., Barth P. G., van den Bosch H., Tager J. M. Peroxisomal disorders in neurology. J Neurol Sci. 1988 Dec;88(1-3):1–39. doi: 10.1016/0022-510x(88)90203-1. [DOI] [PubMed] [Google Scholar]