{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:48:22Z","timestamp":1790153302723,"version":"4.0.1"},"reference-count":34,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1989,8,1]]},"DOI":"10.1136\/jnnp.52.8.954","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:16:40Z","timestamp":1226351800000},"page":"954-961","source":"Crossref","is-referenced-by-count":15,"title":["The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency."],"prefix":"10.1136","volume":"52","author":[{"given":"A M","family":"Umpleby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Trend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Chubb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J V","family":"Conaglen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C D","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Hesp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I N","family":"Scobie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Wiles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P H","family":"Sonksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"174","article-title":"Metabolic myopathies","volume-title":"Handbook of Clinical Neurology Vol 41","author":"S, Di Mauro","year":"1980","unstructured":"Di Mauro S. Metabolic myopathies. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology Vol 41. Amsterdam: North Holland, 1980:174."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/brain\/108.4.845","article-title":"Acid maltase deficiency in adults: diagnosis and management in five cases","volume":"108","author":"StJ, Trend P.; CM, Wiles; GT, Spencer; JA, Morgan-Hughes; BD, Lake; AD, Patrick","year":"1985","unstructured":"Trend P StJ, Wiles CM, Spencer GT, Morgan-Hughes JA, Lake BD, Patrick AD. Acid maltase deficiency in adults: diagnosis and management in five cases. Brain 1985;108:845-60.","journal-title":"Brain"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1136\/jnnp.47.5.549","article-title":"Respiratory failure as initial symptom of acid maltase deficiency","volume":"47","author":"Keunen, R.W.M.; Lambregts, P.C.L.A.; Op de Coul, A.A.W.; Joosten, E.M.G.","year":"1984","unstructured":"Keunen RWM, Lambregts PCLA, Op de Coul AAW, Joosten EMG. Respiratory failure as initial symptom of acid maltase deficiency. J Neurol Neurosurg Psychiatry 1984;47:549-52.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1001\/archneur.1972.00490100074007","article-title":"Comparative study of acid maltase deficiency: biochemical differences between infantile, childhood and adult types","volume":"26","author":"Angelini, C.; Engel, A.G.","year":"1972","unstructured":"Angelini C, Engel AG. Comparative study of acid maltase deficiency: biochemical differences between infantile, childhood and adult types. Arch Neurol 1972;26:344-9.","journal-title":"Arch Neurol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1056\/NEJM197211092871902","article-title":"Adult acid maltase deficiency: abnormalities in fibroblasts cultured from patients","volume":"287","author":"Angelini, C.; Engel, A.G.; Titus, J.L.","year":"1972","unstructured":"Angelini C, Engel AG, Titus JL. Adult acid maltase deficiency: abnormalities in fibroblasts cultured from patients. N Eng J Med 1972;287:948-51.","journal-title":"N Eng J Med"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/0006-291X(78)91207-X","article-title":"Alpha glucosidases in white blood cells, with reference to the detection of acid alpha-1,4-glucosidase deficiency","volume":"85","author":"Dreyfus, J.C.; Poenaru, L.","year":"1978","unstructured":"Dreyfus JC, Poenaru L. Alpha glucosidases in white blood cells, with reference to the detection of acid alpha-1,4-glucosidase deficiency. Biochem Biophys Res Commun 1978;85:615-22.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0022-510X(81)90041-1","article-title":"Late-onset acid maltase deficiency: biochemical studies of leukocytes","volume":"50","author":"Shankse, S.; Di Mauro, S.","year":"1981","unstructured":"Shankse S, Di Mauro S. Late-onset acid maltase deficiency: biochemical studies of leukocytes. J Neurolog Sci 1981;50:57-62.","journal-title":"J Neurolog Sci"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/path.1711160303","article-title":"The pathology of type II skeletal muscle glycogenosis","volume":"116","author":"Hudgson, P.; Fulthorpe, J.J.","year":"1975","unstructured":"Hudgson P, Fulthorpe JJ. The pathology of type II skeletal muscle glycogenosis. J Pathol 1975;116: 139-47.","journal-title":"J Pathol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1136\/jnnp.50.5.587","article-title":"Protein turnover in acid maltase deficiency before and after treatment with a high protein diet","volume":"50","author":"Umpleby, A.M.; St, Wiles C.M.; J, Trend; P.","year":"1987","unstructured":"Umpleby AM, Wiles CM St J, Trend P, et al. Protein turnover in acid maltase deficiency before and after treatment with a high protein diet. J Neurol Neurosurg Psychiatry 1987;50:587-92.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1212\/WNL.33.1.34","article-title":"Improvement of muscle function in acid maltase deficiency by high protein therapy","volume":"33","author":"Slonim, A.E.; Coleman, R.A.; McElligot, M.A.","year":"1983","unstructured":"Slonim AE, Coleman RA, McElligot MA, et al. Improvement of muscle function in acid maltase deficiency by high protein therapy. Neurology 1983;33:34-8.","journal-title":"Neurology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1136\/jnnp.49.9.1011","article-title":"Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures","volume":"49","author":"Isaacs, H.; Savage, N.; Badenhorst, M.; Whistler, T.","year":"1986","unstructured":"Isaacs H, Savage N, Badenhorst M, Whistler T. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry 1986; 49:1011-8.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_12","first-page":"641","article-title":"Maximal static respiratory pressures in generalised neuromuscular disease","volume":"103","author":"Black, L.E.; Hyatt, R.E.","year":"1971","unstructured":"Black LE, Hyatt RE. Maximal static respiratory pressures in generalised neuromuscular disease. Am Rev Resp Dis 1971;103:641-50.","journal-title":"Am Rev Resp Dis"},{"key":"ref_13","first-page":"15","article-title":"Abdominal and thoracic pressures at different lung volumes","volume":"1960","author":"Agostini, E.; Rahn, H.","unstructured":"Agostini E, Rahn H. Abdominal and thoracic pressures at different lung volumes. J Appl Physiol 1960:15: 1087-92.","journal-title":"J Appl Physiol"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1088\/0031-9155\/24\/1\/016","article-title":"Total body potassium calibration for normal and obese subjects in two types of whole body counter","volume":"24","author":"Smith, T.; Hesp, R.; Mackenzie, J.","year":"1979","unstructured":"Smith T, Hesp R, Mackenzie J. Total body potassium calibration for normal and obese subjects in two types of whole body counter. Physiology in Medicine and Biology 1979;24:171-5.","journal-title":"Physiology in Medicine and Biology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1136\/jcp.25.6.512","article-title":"The relation of total body potassium to height, weight and age in normal adults","volume":"25","author":"Boddy, K.; King, P.C.; Hume, R.; Weyers, E.","year":"1972","unstructured":"Boddy K, King PC, Hume R, Weyers E. The relation of total body potassium to height, weight and age in normal adults. J Clin Pathol 1972;25:512-7.","journal-title":"J Clin Pathol"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/BF02427082","article-title":"The effect ofmetabolic control on leucine metabolism in Type 1 (insulin dependent) diabetic patients","volume":"29","author":"Umpleby, A.M.; Brown, P.M.; Boroujerdi, M.A.; Carson, E.R.; S6nsken, P.H.","year":"1986","unstructured":"Umpleby AM, Brown PM, Boroujerdi MA, Carson ER, S6nsken PH. The effect ofmetabolic control on leucine metabolism in Type 1 (insulin dependent) diabetic patients. Diabetologia 1986;29: 131-41.","journal-title":"Diabetologia"},{"issue":"82","key":"ref_17","first-page":"90","article-title":"Enzymic determination ofD(-) hydroxybutyrate acid and acetoacetic acid in blood","volume":"1962","author":"Williamson, D.H.; Mellanby, J.; Krebs, H.A.","unstructured":"Williamson DH, Mellanby J, Krebs HA. Enzymic determination ofD(-) hydroxybutyrate acid and acetoacetic acid in blood. Biochemistry 1962;82:90-6.","journal-title":"Biochemistry"},{"key":"ref_18","first-page":"18","article-title":"Bucher Uber Metaboltgehalte und metabolit-konzentrationen in der leber der ratte","volume":"332","author":"Hohorst, H.J.; Kreutz, F.H.","year":"1959","unstructured":"Hohorst HJ, Kreutz FH. Bucher Uber Metaboltgehalte und metabolit-konzentrationen in der leber der ratte. Biochemische Zeitschrift 1959;332: 18-46.","journal-title":"Biochemische Zeitschrift"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2595","DOI":"10.1016\/S0021-9258(19)76920-8","article-title":"Microdetermination of longchain fatty acids in plasma and tissues","volume":"235","author":"Dole, V.P.; Meinhertz, H.","year":"1960","unstructured":"Dole VP, Meinhertz H. Microdetermination of longchain fatty acids in plasma and tissues. J Biol Chem 1960;235:2595-9.","journal-title":"J Biol Chem"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/0009-8981(73)90231-3","article-title":"Free fatty acid estimation by a semi-automated fluorimetric method","volume":"49","author":"Carruthers, M.; Young, D.A.B.","year":"1973","unstructured":"Carruthers M, Young DAB. Free fatty acid estimation by a semi-automated fluorimetric method. Clin Chim Acta 1973;49:341-8.","journal-title":"Clin Chim Acta"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1137\/0111030","article-title":"An algorithm for least squares estimation of non-linear parameters","volume":"11","author":"Marquardt, D.W.","year":"1963","unstructured":"Marquardt DW. An algorithm for least squares estimation of non-linear parameters. Journal of Social Industrial Applied Mathematics. 1963;11:431-41.","journal-title":"Journal of Social Industrial Applied Mathematics"},{"key":"ref_22","article-title":"Expert Committee on Diabetes Mellitus","author":"World Health Organisation","year":"1980","unstructured":"World Health Organisation Expert Committee on Diabetes Mellitus 2nd Report (1980).","edition":"2nd Report"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/oxfordjournals.bmb.a072060","article-title":"Muscle protein turnover and the wasting due to injury and disease","volume":"41","author":"Rennie, M.J.","year":"1985","unstructured":"Rennie MJ. Muscle protein turnover and the wasting due to injury and disease. Br Med Bull 1985;41:257-64.","journal-title":"Br Med Bull"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/296165a0","article-title":"Effects of Duchenne muscular dystrophy on muscle protein synthesis","volume":"296","author":"Rennie, M.J.; Edwards, R.H.T.; Millward, D.J.; Wolman, S.L.; Halliday, D.; Matthews, D.E.","year":"1982","unstructured":"Rennie MJ, Edwards RHT, Millward DJ, Wolman SL, Halliday D, Matthews DE. Effects of Duchenne muscular dystrophy on muscle protein synthesis. Nature 1982;296:165-7.","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1136\/bmj.289.6445.584","article-title":"Protein synthesis in muscle measured in vivo in cachetic patients with cancer","volume":"289","author":"Emery, P.W.; Edwards, R.H.T.; Rennie, M.J.; Souhani, R.K.; Halliday, D.","year":"1984","unstructured":"Emery PW, Edwards RHT, Rennie MJ, Souhani RK, Halliday D. Protein synthesis in muscle measured in vivo in cachetic patients with cancer. Br Med J 1984;289:584-6.","journal-title":"Br Med J"},{"key":"ref_26","first-page":"294","article-title":"Effects of major skeletal trauma on whole body protein turnover in man measured by L-[ 4C] leucine","volume":"88","author":"Birkhahn, R.H.; Long, C.L.; Fitkin, D.; Dyger, J.W.; Blakemore, W.S.","year":"1980","unstructured":"Birkhahn RH, Long CL, Fitkin D, Dyger JW, Blakemore WS. Effects of major skeletal trauma on whole body protein turnover in man measured by L-[ 4C] leucine. Surgery 1980;88:294-9.","journal-title":"Surgery"},{"key":"ref_27","first-page":"383","article-title":"Increased rates of whole body synthesis and breakdown in children recovering from burns","volume-title":"Ann Surg","volume":"187","author":"Kien, C.L.; Young, V.R.; Rohrbaugh, D.K.; Burke, J.F.","year":"1978","unstructured":"Kien CL, Young VR, Rohrbaugh DK, Burke JF. Increased rates of whole body synthesis and breakdown in children recovering from burns. Ann Surg 1978;187:383-91."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0026-0495(84)90127-6","article-title":"Insulin-dependent metabolism of branchedchain amino acids in obesity","volume":"33","author":"Forlani, G.; Vannini, P.; Marchesini, G.; Zoli, M.; Ciavarella, A.; Pisi, E.","year":"1984","unstructured":"Forlani G, Vannini P, Marchesini G, Zoli M, Ciavarella A, Pisi E. Insulin-dependent metabolism of branchedchain amino acids in obesity. Metabolism 1984;33 147-50.","journal-title":"Metabolism"},{"key":"ref_29","first-page":"712","article-title":"Whole body leucine and lysine metabolism: response to dietary protein intake in young men","volume":"240","author":"Motil, K.J.; Matthews, D.E.; Bier, D.M.; Burke, J.F.; Munro, H.N.; Young, V.R.","year":"1981","unstructured":"Motil KJ, Matthews DE, Bier DM, Burke JF, Munro HN, Young VR. Whole body leucine and lysine metabolism: response to dietary protein intake in young men. Am J Physiol 1981;240:E712-21.","journal-title":"Am J Physiol"},{"key":"ref_30","first-page":"634","article-title":"Alanine kinetics in humans: influence of different isotopic tracers","volume":"247","author":"Yang, R.D.; Matthews, D.E.; Bier, D.M.; Lo, C.; Young, V.R.","year":"1984","unstructured":"Yang RD, Matthews DE, Bier DM, Lo C, Young VR. Alanine kinetics in humans: influence of different isotopic tracers. Am J Physiol 1984;247:E634-8.","journal-title":"Am J Physiol"},{"key":"ref_31","first-page":"39","article-title":"Response of alanine metabolism in humans to manipulation of dietary protein and energy intakes","volume":"250","author":"Yang, R.D.; Matthews, D.E.; Bier, D.M.; Wen, Z.M.L.; Young, V.R.","year":"1984","unstructured":"Yang RD, Matthews DE, Bier DM, Wen ZML, Young VR. Response of alanine metabolism in humans to manipulation of dietary protein and energy intakes. Am J Physiol 1984;250:E39-46.","journal-title":"Am J Physiol"},{"key":"ref_32","first-page":"238","article-title":"Carbohydrate and lipid metabolism in relation to body composition in myotonic dystrophy","volume":"22","author":"Bjorntonp, P.; Schroder, G.; Ornhdahl, G.","year":"1977","unstructured":"Bjorntonp P, Schroder G, Ornhdahl G. Carbohydrate and lipid metabolism in relation to body composition in myotonic dystrophy. Diabetes 1977;22:238-42.","journal-title":"Diabetes"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1016\/0026-0495(64)90158-1","article-title":"The association of amyotrophic lateral sclerosis (motor neuron disease) and carbohydrate intolerance; a clinical study","volume":"13","author":"Steinke, J.; Tyler, H.R.","year":"1964","unstructured":"Steinke J, Tyler HR. The association of amyotrophic lateral sclerosis (motor neuron disease) and carbohydrate intolerance; a clinical study. Metabolism 1964;13: 1376-81.","journal-title":"Metabolism"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1042\/cs0640601","article-title":"Influence of muscle wasting on oral glucose tolerance testing","volume":"64","author":"Moxley, R.T.; Griggs, R.C.; Forbes, G.B.; Goldblatt, D.; Donohoe, K.","year":"1983","unstructured":"Moxley RT, Griggs RC, Forbes GB, Goldblatt D, Donohoe K. Influence of muscle wasting on oral glucose tolerance testing. Clin Sci 1983;64:601-9.","journal-title":"Clin Sci"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.52.8.954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T09:37:41Z","timestamp":1632130661000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.52.8.954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,8,1]]},"references-count":34,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1989,8,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.52.8.954","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1989,8,1]]}}}