{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T06:34:54Z","timestamp":1775025294501,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1994,3,22]],"date-time":"1994-03-22T00:00:00Z","timestamp":764294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Erythrocyte thiamin metabolism and transport were investigated in 7 patients from Brazil, Israel and Italy suffering from thiamin\u2010responsive megaloblastic anaemia (TRMA) associated with diabetes mellitus and sensorineural deafness. All patients discontinued thiamin therapy for 4\u20137 days before the investigation. TRMA patients showed invariably reduced total thiamin levels in erythrocytes (percentage reduction compared with healthy controls, \u221246.8\u00b13%; mean\u00b1SEM). The proportions of individual thiamin compounds, expressed as a percentage of total thiamin content, were within the normal range, whereas their absolute amounts were significantly decreased in the following order: thiamin monophosphate &gt; thiamin pyrophosphate &gt; thiamin. Thiamin pyrophosphokinase activity was also reduced as compared with controls (mean reduction\u00b1SEM, \u221225.9\u00b11%). The saturable, specific component of thiamin uptake, which normally prevails at physiological concentrations of thiamin (&lt;2\u00b5mol\/L), was absent in erythrocytes obtained from TRMA patients, while the non\u2010saturable (diffusive) component of uptake was normally present.<\/jats:p><jats:p>These results confirm observations made previously in two patients and demonstrate that TRMA is consistently associated with a state of thiamin deficiency, which is presumably secondary to reduced thiamin cellular transport and absorption (caused by lack of a membrane\u2010specific carrier), and to impaired intracellular pyrophosphorylation.<\/jats:p>","DOI":"10.1007\/bf00712009","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T05:22:31Z","timestamp":1101878551000},"page":"667-677","source":"Crossref","is-referenced-by-count":62,"title":["Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin\u2010responsive megaloblastic anaemia"],"prefix":"10.1002","volume":"17","author":[{"given":"G.","family":"Rindi","sequence":"first","affiliation":[{"name":"Institute of Human Physiology University of Pavia  Via Forlanini 6 Pavia I\u201027100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Patrini","sequence":"additional","affiliation":[{"name":"Institute of Human Physiology University of Pavia  Via Forlanini 6 Pavia I\u201027100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Laforenza","sequence":"additional","affiliation":[{"name":"Institute of Human Physiology University of Pavia  Via Forlanini 6 Pavia I\u201027100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Mandel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rambam Medical Center, Bat Galim  Haifa 31096 Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Berant","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rambam Medical Center, Bat Galim  Haifa 31096 Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. B.","family":"Viana","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine at UFMG  Av. A. Balena 190 Belo Horizonte 30130\u2010100 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Poggi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Haematology Pausilipon Hospital  Naples I\u201080123 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. N. F.","family":"Zarra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Haematology Pausilipon Hospital  Naples I\u201080123 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1994,3,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80011-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)83533-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1988.sp017045"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01872201"},{"key":"e_1_2_1_6_1","first-page":"99","article-title":"Subcellular distribution of thiamine\u2010pyrophosphokinase and thiamine\u2010pyrophosphatase activities in rat isolated enterocytes","volume":"47","author":"Cusaro G","year":"1977","journal-title":"Int J Vit Nutr Res"},{"issue":"22","key":"e_1_2_1_7_1","first-page":"26","article-title":"Vitesse de conduction et contenu en thiamine (cocarboxylase) du nerf","volume":"14","author":"De Caro LG","year":"1962","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2736(70)90229-4"},{"key":"e_1_2_1_9_1","first-page":"197","article-title":"Changes in enzyme activities induced by nutritional deficiencies. II. Determination of the state of saturation with thiamine by biochemical methods","volume":"36","author":"Feldheim W","year":"1966","journal-title":"Int J Vit Nutr Res"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.3181\/00379727-116-29395"},{"key":"e_1_2_1_11_1","first-page":"543","article-title":"Thiamine responsive anemia: Report of a new case associated with a thiamine pyrophosphokinase deficiency","volume":"33","author":"Grill J","year":"1991","journal-title":"Nouv Rev Fr H\u00e9matol"},{"key":"e_1_2_1_12_1","first-page":"346","article-title":"Thiamine and heart function","volume":"15","author":"Gubler CJ","year":"1969","journal-title":"J Vitaminol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.1983.73"},{"key":"e_1_2_1_14_1","first-page":"1466","article-title":"Vitamin B1\u2010Mangel bei chronischen \u00c4thylikern und sein klinisches Korrelat","volume":"106","author":"Hell D","year":"1976","journal-title":"Schweitz Med Wochenschr"},{"key":"e_1_2_1_15_1","first-page":"29","volume-title":"Review of Japanese Literature on Beriberi and Thiamine","author":"Inouye K","year":"1965"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90002-9"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.alcalc.a045055"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/155005948201300203"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198409273111307"},{"key":"e_1_2_1_21_1","unstructured":"MandelH VardiP Gershoni\u2010Baruch PatriniC BerantM(1994)Thiamine responsive diabetes: a novel category of diabetes.N Engl J Medsubmitted.."},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105912"},{"key":"e_1_2_1_23_1","first-page":"2000","article-title":"Thiamine\u2010beduerftige megaloblastische An\u00e4mie","volume":"94","author":"Niederhoff H","year":"1969","journal-title":"Deutsch Med Wochenschr"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444120"},{"key":"e_1_2_1_25_1","first-page":"523","article-title":"Effects of insulin secretagogues on the secretion of insulin during thiamine deficiency","volume":"17","author":"Rathanaswami P","year":"1988","journal-title":"Biochem Int"},{"key":"e_1_2_1_26_1","first-page":"1057","article-title":"Effects of thiamine deficiency on the biosynthesis of insulin in rats","volume":"24","author":"Rathanaswami P","year":"1991","journal-title":"Biochem Int"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.3109\/13813459208998114"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1972.52.4.821"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799637"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V3.12.1453.1453"},{"key":"e_1_2_1_31_1","first-page":"129","article-title":"Effect of experimental thiamine deficiency on the nervous system of the Rhesus monkey","volume":"48","author":"Rinehart JF","year":"1949","journal-title":"Arch Pathol"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.37.1.11"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80031-4"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1033992"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365527809181738"},{"key":"e_1_2_1_36_1","first-page":"315","article-title":"Thiamine pyrophosphokinase activity in liver, heart and brain crude extracts of control and thiamine deficient rats","volume":"47","author":"Sanioto SML","year":"1977","journal-title":"Int J Vit Nutr Res"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.3177\/jnsv.36.209"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.3177\/jnsv.20.35"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1530-0277.1993.tb00825.x"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1981.tb07080.x"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80503-4"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1981.tb11578.x"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/108.3.421"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.2307\/1266456"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00712009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:58:27Z","timestamp":1694753907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00712009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3,22]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1994,11]]}},"alternative-id":["10.1007\/BF00712009"],"URL":"https:\/\/doi.org\/10.1007\/bf00712009","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3,22]]}}}