{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T08:28:39Z","timestamp":1697963319717},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1985,1,1]],"date-time":"1985-01-01T00:00:00Z","timestamp":473385600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Virchows Archiv B Cell Pathol"],"published-print":{"date-parts":[[1985,1]]},"DOI":"10.1007\/bf02890127","type":"journal-article","created":{"date-parts":[[2008,4,16]],"date-time":"2008-04-16T07:17:24Z","timestamp":1208330244000},"page":"185-196","source":"Crossref","is-referenced-by-count":2,"title":["Mitochondrial myopathy with diffuse activation and focal deficiency of mitochondrial ATPase and carnitine deficiency"],"prefix":"10.1007","volume":"48","author":[{"given":"J.","family":"M\u00fcller-H\u00f6cker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Paetzke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Pongratz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"H\u00fcbner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02890127_CR1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00313485","volume":"214","author":"C Angelini","year":"1976","unstructured":"Angelini C (1976) Lipid storage myopathies. J Neurol 214:1\u201311","journal-title":"J Neurol"},{"key":"BF02890127_CR2","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0022-510X(83)90209-5","volume":"62","author":"PG Barth","year":"1983","unstructured":"Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsei, Luyt-Houwen IEM, Van\u2019t Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol SCI 62:327\u2013355","journal-title":"J Neurol SCI"},{"key":"BF02890127_CR3","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0022-510X(78)90003-5","volume":"35","author":"WG Bradley","year":"1978","unstructured":"Bradley WG, Tomlinson BE, Hardy M (1978) Further studies of mitochondrial and lipid storage myopathies. J Neurol Sci 35:201\u2013210","journal-title":"J Neurol Sci"},{"key":"BF02890127_CR4","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1152\/physrev.1983.63.4.1420","volume":"63","author":"J Bremer","year":"1983","unstructured":"Bremer J (1983) Carnitine \u2014 metabolism and functions. Physiological reviews. 63:1420\u20131480","journal-title":"Physiological reviews"},{"key":"BF02890127_CR5","first-page":"207","volume-title":"Mitochondria and muscular diseases","author":"MFM Busch","year":"1981","unstructured":"Busch MFM, Scholte MR, Arts WF, Luyt-Houwen IEM (1981) A mitochondrial myopathy with a respiratory chain defect and carnitine deficiency. In: Busch HFM, Jennekens FGI, Scholte MR (eds) Mitochondria and muscular diseases. Mefar, Beesterzwaag, pp 207\u2013211"},{"key":"BF02890127_CR6","unstructured":"Busch HFM, Scholte HR, Luyt-Houwen IEM, Arts WFM (1984) A mitochondrial myopathy with a deficiency of NADH-CoQ reductase activity in a mother and son. Third int Symposium on inborn errors of metabolism in humans. Karger, Basel, ISBN3-8055-3894-4, 39\u201340 [Abstr]"},{"key":"BF02890127_CR7","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1212\/WNL.30.6.618","volume":"30","author":"JE Carroll","year":"1980","unstructured":"Carroll JE, Brooke MH, De Vivo DC, Shurmate JB, Kratz R, Ringel SP, Hagberg JM (1980) Carnitine deficiency: Lack of response to carnitine therapy. Neurology 30:618\u2013626","journal-title":"Neurology"},{"key":"BF02890127_CR8","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1056\/NEJM198012113032403","volume":"303","author":"PR Chapoy","year":"1980","unstructured":"Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL, Cederbaum SD (1980) Systemic carnitine deficiency a treatable inherited lipid-storage disease presenting as Reye\u2019s syndrome. N Eng J Med 303:1389\u20131394","journal-title":"N Eng J Med"},{"key":"BF02890127_CR9","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1136\/jnnp.40.2.170","volume":"40","author":"F Cornelio","year":"1977","unstructured":"Cornelio F, Di Donato S, Peluchetti D, Bizzi A, Bertagnolio B, D\u2019Angelo A, Wiesmann U (1977) Fatal cases of lipid storage myopathy with carnitine dificiency. J Neurol Neurosurg Psychiatry 40:170\u2013178","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BF02890127_CR10","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1212\/WNL.28.11.1110","volume":"28","author":"S Donato Di","year":"1978","unstructured":"Di Donato S, Cornelio F, Balestrini MR, Bertagnolio B, Peluchetti D (1978) Mitochondrialipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. Neurology 28:1110\u20131116","journal-title":"Neurology"},{"key":"BF02890127_CR11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1212\/WNL.34.2.157","volume":"34","author":"S Donato Di","year":"1984","unstructured":"Di Donato S, Peluchetti M, Rimoldi M, Mora M, Garavaglia B, Finocchiaro G (1984) Systemic carnitine deficiency: clinical biochemical and morphological cure with 1-carnitine. Neurology 34:157\u2013162","journal-title":"Neurology"},{"key":"BF02890127_CR12","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0022-510X(76)90063-0","volume":"27","author":"Mauro S Di","year":"1976","unstructured":"Di Mauro S, Bonilla E, Lee CP, Schotland DL, Scarpa A, Conn H, Chance B (1976) Luffs disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 27:217\u2013232","journal-title":"J Neurol Sci"},{"key":"BF02890127_CR13","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/mus.880030502","volume":"3","author":"Mauro S Di","year":"1980","unstructured":"Di Mauro S, Trevisan C, Hays A (1980a) Disorders of lipid metabolism in muscle. Muscle Nerve 3:369\u2013388","journal-title":"Muscle Nerve"},{"key":"BF02890127_CR14","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1212\/WNL.30.8.795","volume":"30","author":"Mauro S Di","year":"1980","unstructured":"Di Mauro S, Mendell JR, Sahenk Z, Bachmann D, Scarpa A, Scofield RM, Rainer C (1980b) Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology 30:795\u2013804","journal-title":"Neurology"},{"key":"BF02890127_CR15","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/B978-0-12-267060-2.50026-2","volume-title":"Carnitine biosynthesis, metabolism and functions","author":"AG Engel","year":"1980","unstructured":"Engel AG (1980) Possible causes and effects of carnitine deficiency in man. In: Frenkel RA, McGarry JD (eds) Carnitine biosynthesis, metabolism and functions. Academic Press, New York, pp 271\u2013285"},{"key":"BF02890127_CR16","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1038\/1841851a0","volume":"184","author":"L Ernster","year":"1959","unstructured":"Ernster L, Ikkos D, Luft R (1959) Enzymatic activities of human skeletal muscle mitochondria a tool in clinical metabolic research. Nature 184:1851\u20131854","journal-title":"Nature"},{"key":"BF02890127_CR17","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1212\/WNL.28.2.147","volume":"28","author":"ZH Hart","year":"1978","unstructured":"Hart ZH, Chang ChD, Di Mauro S, Farooki Q, Ayyar R (1978) Muscle carnitine deficiency and fatal cardiomyopathy. Neurology 28:147\u2013151","journal-title":"Neurology"},{"key":"BF02890127_CR18","doi-asserted-by":"crossref","first-page":"548","DOI":"10.7326\/0003-4819-74-4-548","volume":"74","author":"NA Haydar","year":"1971","unstructured":"Haydar NA, Conn HL, Afif\u00ef A, Wakid N, Ballas S, Fawaz K (1971) Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria. Ann Int Med 74:548\u2013588","journal-title":"Ann Int Med"},{"key":"BF02890127_CR19","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1212\/WNL.32.8.898","volume":"32","author":"TD Heiman-Patterson","year":"1982","unstructured":"Heiman-Patterson TD, Bonilla E, Di Mauro S, Foreman J, Schotland DL (1982) Cytochromec-oxidase deficiency in a floppy infant. Neurology 32:898\u2013900","journal-title":"Neurology"},{"key":"BF02890127_CR20","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1001\/archneur.1973.00490270044007","volume":"29","author":"F Jerusalem","year":"1973","unstructured":"Jerusalem F, Angelini C, Engel AG, Groover RV (1973) Mitochondria lipid glycogen disease of muscle. Arch Neurol 29:162\u2013169","journal-title":"Arch Neurol"},{"key":"BF02890127_CR21","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1212\/WNL.25.1.16","volume":"25","author":"G Karpati","year":"1975","unstructured":"Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Marner O (1975) The syndrome of systemic carnitine deficiency. Neurology 25:16\u201324","journal-title":"Neurology"},{"key":"BF02890127_CR22","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1172\/JCI104637","volume":"41","author":"R Luft","year":"1962","unstructured":"Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B (1962) A case of severe hypermetabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical and morphological study. J Clin Invest 41:1776\u20131804","journal-title":"J Clin Invest"},{"key":"BF02890127_CR23","first-page":"333","volume":"7","author":"AEFH Meijer","year":"1972","unstructured":"Meijer AEFH (1972) Morphologie, Histochemie and Biochemie mitochondrialer Skelettmuskelkrankheiten. Acta Histochem [Suppl] 7:333\u2013334","journal-title":"Acta Histochem [Suppl]"},{"key":"BF02890127_CR24","first-page":"257","volume":"23","author":"AEFH Meijer","year":"1977","unstructured":"Meijer AEFH (1977) Skeletal muscle disease with disordered oxidative phosphorylation in the isolated muscle mitochondria. Cell Mol Biol 23:257\u2013265","journal-title":"Cell Mol Biol"},{"key":"BF02890127_CR25","first-page":"71","volume-title":"Mitochondria and muscular diseases","author":"AEFH Meijer","year":"1981","unstructured":"Meijer AEFH (1981) The histochemical detection of loosely coupled mitochondria in biopsies of skeletal muscles. In: Busch HFM, Jennekens FGI, Scholte HR (eds) Mitochondria and muscular diseases. Mefar, Beetsterzwaag, pp 71\u201376"},{"key":"BF02890127_CR26","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/BF01002967","volume":"15","author":"AEFH Meijer","year":"1983","unstructured":"Meijer AEFH (1983) The histochemical demonstration of loosely coupled mitochondria in human skeletal muscle. Histochem J 15:331\u2013335","journal-title":"Histochem J"},{"key":"BF02890127_CR27","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00489769","volume":"69","author":"AEFH Meijer","year":"1980","unstructured":"Meijer AEFH, Vloedman AHT (1980) The histochemical characterization of the coupling state of skeletal muscle mitochondria. Histochemistry 69:217\u2013232","journal-title":"Histochemistry"},{"key":"BF02890127_CR28","unstructured":"Meijer AE:FH, Scholte HR, Busch HFM (1984) Zur histochemischen Kennzeichnung und der m\u00f6glichen Bedeutung von Skelettmuskelmitochondrien mit einem Defekt der oxidativen Phosphorylierung. 4. Int Myologie-Kolloquium Jena, April 1984"},{"key":"BF02890127_CR29","first-page":"309","volume-title":"Mitochondrial myopathies","author":"JA Morgan-Hughes","year":"1982","unstructured":"Morgan-Hughes JA (1982) Mitochondrial myopathies. In: Mastaglia FL, Walton F (eds) Churchill-Livingstone, Endinburgh, London, pp 309\u2013339"},{"key":"BF02890127_CR30","first-page":"19","volume-title":"Mitochondrial pathology in muscle diseases G Scarlato","author":"JA Morgan-Hughes","year":"1983","unstructured":"Morgan-Hughes JA, Landon DN (1983) Mitochondrial respiratory chain deficiency in man. In: Cerri C (eds) Mitochondrial pathology in muscle diseases G Scarlato. Piccin medical books, Padua, pp 19\u201337"},{"key":"BF02890127_CR31","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF00666215","volume":"399","author":"J M\u00fcller-H\u00f6cker","year":"1983","unstructured":"M\u00fcller-H\u00f6cker J, Pongratz D, Deufel Th, Trijbels JMF, Endres W, H\u00fcbner G (1983) Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. Virchows Arch [Pathol Anat] 399:11\u201323","journal-title":"Virchows Arch [Pathol Anat]"},{"key":"BF02890127_CR32","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF02889859","volume":"45","author":"J M\u00fcller-H\u00f6cker","year":"1984","unstructured":"M\u00fcller-H\u00f6cker J, Walther JU, Bise K, Pongratz D, H\u00fcbner G (1984) Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. Virchows Arch [Cell Pathol] 45:125\u2013138","journal-title":"Virchows Arch [Cell Pathol]"},{"key":"BF02890127_CR33","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1007\/BF01478549","volume":"57","author":"D Pongratz","year":"1979","unstructured":"Pongratz D, H\u00fcbner G, Deufel Th, Wieland O, Pongrratz E, Liphardt R (1979) Klinische morphologische und biochemische Befunde bei Carnitinmangelmyopathien. Klin Wochenschr 57:927\u2013936","journal-title":"Klin Wochenschr"},{"key":"BF02890127_CR34","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1212\/WNL.33.12.1629","volume":"33","author":"LD Prockop","year":"1983","unstructured":"Prockop LD, Engel WK, Shug AL (1983) Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy. Neurology 33:1629\u20131631","journal-title":"Neurology"},{"key":"BF02890127_CR35","first-page":"533","volume":"58","author":"Ch Rebouche","year":"1983","unstructured":"Rebouche Ch, Engel AG (1983) Carnitine metabolism and deficiency syndromes. Mayo Clin Proc 58:533\u2013540","journal-title":"Mayo Clin Proc"},{"key":"BF02890127_CR36","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/BF00313387","volume":"227","author":"M Rimoldi","year":"1982","unstructured":"Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, Di Donato S (1982) Cytochrome-coxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol 227:201\u2013207","journal-title":"J Neurol"},{"key":"BF02890127_CR37","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1017\/S0317167100024562","volume":"5","author":"G Scarlato","year":"1978","unstructured":"Scarlato G, Pellegrini G, Cerri C, Meola G, Veicsteinas A (1978) The syndrome of carnitine deficiency: Morphological and metabolic correlations in two cases. J Can Sci Neurol 5:205\u2013213","journal-title":"J Can Sci Neurol"},{"key":"BF02890127_CR38","first-page":"215","volume-title":"Mitochondrial pathology in muscle diseases","author":"HR Sch\u00f6lte","year":"1983","unstructured":"Sch\u00f6lte HR, Busch HFM, Barth PG, Beekman RP, Berden JA, Duran M, Luyt-Houwen IEM, Przyrembel H, Roth B, De Vries S (1983) Carnitine deficiency and mitochondrial respiratory chain blockade. In: Scarlato G, Cerri C (eds) Mitochondrial pathology in muscle diseases. Piccin Medical books, Padua, pp 215\u2013228"},{"key":"BF02890127_CR39","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1007\/BF00442676","volume":"140","author":"RCA Sengers","year":"1983","unstructured":"Sengers RCA, Fischer JC, Trijbels JMF, Ruitenbeek W, Stadhouders AM, ter Laak HF, Jaspar JH (1983) A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. Eur J Pediatr 140:332\u2013337","journal-title":"Eur J Pediatr"},{"key":"BF02890127_CR40","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/BF00443221","volume":"141","author":"RCA Sengers","year":"1984","unstructured":"Sengers RCA, Trijbels JMF, Bakkeren JAJM, Ruitenbeek W, Fischer JC, Janssen AJM, Stadhouders AM, Laak HJ (1984) Deficiency of cytochrome-b and aa3 in muscle from a floppy infant with cytochrome-c-oxidase deficiency. Eur J Pediatr 141:178\u2013180","journal-title":"Eur J Pediatr"},{"key":"BF02890127_CR41","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/S0022-3476(82)80294-1","volume":"1001","author":"LJ Waber","year":"1982","unstructured":"Waber LJ, Valle D, Neill A, Di Mauro S, Shug A (1982) Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J Pediatr 1001:700\u2013705","journal-title":"J Pediatr"},{"key":"BF02890127_CR42","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0022-510X(79)90042-X","volume":"41","author":"J Di Mauro S Willner","year":"1979","unstructured":"Willner J Di Mauro S, Eastwood A, Hays A, Roohi F, Lovelace R (1979) Muscle carnitine deficiency. J Neurol Sci 41:235\u2013246","journal-title":"J Neurol Sci"}],"container-title":["Virchows Archiv B Cell Pathology Including Molecular Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02890127.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02890127\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02890127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T17:09:48Z","timestamp":1558544988000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02890127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,1]]}},"alternative-id":["BF02890127"],"URL":"https:\/\/doi.org\/10.1007\/bf02890127","relation":{},"ISSN":["0042-6431"],"issn-type":[{"value":"0042-6431","type":"print"}],"subject":[],"published":{"date-parts":[[1985,1]]}}}