{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:49:24Z","timestamp":1791902964213,"version":"4.3.4"},"reference-count":64,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1980,5,1]]},"DOI":"10.1136\/adc.55.5.331","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:33:49Z","timestamp":1229981629000},"page":"331-347","source":"Crossref","is-referenced-by-count":230,"title":["Shwachman's syndrome. A review of 21 cases."],"prefix":"10.1136","volume":"55","author":[{"given":"P J","family":"Aggett","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N P","family":"Cavanagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D J","family":"Matthew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J R","family":"Pincott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Sutcliffe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J T","family":"Harries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"issue":"24","key":"ref_1","first-page":"547","article-title":"The syndrome ofexocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism","volume":"1969","author":"H, Shmerling D.; A, Prader; H, Hitzig W.; A, Giedion; B, Hadorn; M, Kuhni","unstructured":"Shmerling D H, Prader A, Hitzig W H, Giedion A, Hadorn B, Kuhni M. The syndrome ofexocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism. Helv Paediatr Acta 1969; 24: 547-75.","journal-title":"Helv Paediatr Acta"},{"key":"ref_2","article-title":"Assessment of skeletal maturity and prediction of adult height (TW2 method)","author":"M, Tanner J.; H, Whitehouse R.; A, Marshall W.; R, Healy M.J.; H, Goldstein","year":"1976","unstructured":"Tanner J M, Whitehouse R H, Marshall W A, Healy M J R, Goldstein H. Assessment of skeletal maturity and prediction of adult height (TW2 method). New York: Academic Press, 1976."},{"key":"ref_3","article-title":"Radiographic atlas of skeletal development of the hand and wrist","author":"W, Greulich W.; C, Pyle S.","year":"1966","unstructured":"Greulich W W, Pyle S C. Radiographic atlas of skeletal development of the hand and wrist. London: Oxford University Press, 1966."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/0007-0971(75)90054-6","article-title":"Lung function in childhood. I. The expiratory volumes in healthy children using a spirometer and reverse plethysmograph","volume":"69","author":"J, Cogswell J.; D, Hull; D, Milner A.; P, Norman A.; B, Taylor","year":"1975","unstructured":"Cogswell J J, Hull D, Milner A D, Norman A P, Taylor B. Lung function in childhood. I. The expiratory volumes in healthy children using a spirometer and reverse plethysmograph. Br J Dis Chest 1975; 69: 40-50.","journal-title":"Br J Dis Chest"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/0007-0971(75)90064-9","article-title":"Lung function in childhood. II. Thoracic gas volumes and helium functional residual capacity measurements in healthy children","volume":"69","author":"J, Cogswell J.; D, Hull; D, Milner A.; P, Norman A.; B, Taylor","year":"1975","unstructured":"Cogswell J J, Hull D, Milner A D, Norman A P, Taylor B. Lung function in childhood. II. Thoracic gas volumes and helium functional residual capacity measurements in healthy children. Br J Dis Chest 1975; 69: 118-24.","journal-title":"Br J Dis Chest"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0007-0971(75)90077-7","article-title":"Lung function in childhood. III. Measurement of airflow resistance in healthy children","volume":"69","author":"J, Cogswell J.; D, Hull; D, Milner A.; P, Norman A.; B, Taylor","year":"1975","unstructured":"Cogswell J J, Hull D, Milner A D, Norman A P, Taylor B. Lung function in childhood. III. Measurement of airflow resistance in healthy children. Br J Dis Chest 1975; 69: 177-87.","journal-title":"Br J Dis Chest"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1136\/adc.51.11.859","article-title":"Thoracic gas volume in early childhood","volume":"51","author":"J, Hatch D.; W, Taylor B.","year":"1976","unstructured":"Hatch D J, Taylor B W. Thoracic gas volume in early childhood. Arch Dis Child 1976; 51: 859-64.","journal-title":"Arch Dis Child"},{"key":"ref_8","article-title":"Growth at adolescence","author":"M, Tanner J.","year":"1962","unstructured":"Tanner J M. Growth at adolescence. 2nd ed. Oxford: Blackwell, 1962.","edition":"2nd ed"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/adc.55.3.236","article-title":"A normal paediatric amylase range","volume":"55","author":"J, Aggett P.; F, Taylor","year":"1980","unstructured":"Aggett P J, Taylor F. A normal paediatric amylase range. Arch Dis Child 1980; 55: 236-8.","journal-title":"Arch Dis Child"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/adc.42.222.147","article-title":"Association of pancreatic insufficiency and chronic neutropenia in childhood","volume":"42","author":"Burke, V.; H, Colebatch J.; M, Anderson C.; J, Simons M.","year":"1967","unstructured":"Burke V, Colebatch J H, Anderson C M, Simons M J. Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch Dis Child 1967; 42:147-57.","journal-title":"Arch Dis Child"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1651-2227.1964.tb07237.x","article-title":"Congenital hypoplasia of the exocrine pancreas","volume":"53","author":"Bodian, M.; Sheldon, W.; Lightwood, R.","year":"1964","unstructured":"Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr Scand 1964; 53: 282-93.","journal-title":"Acta Paediatr Scand"},{"issue":"18","key":"ref_12","first-page":"1135","article-title":"L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant","volume":"1961","author":"Nezelof, C.; Watchi, M.","unstructured":"Nezelof C, Watchi M. L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant. Arch Fr Pediatr 1961; 18: 1135-72.","journal-title":"Arch Fr Pediatr"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0022-3476(64)80150-5","article-title":"The syndrome of pancreatic insufficiency and bone marrow dysfunction","volume":"65","author":"Shwachman, H.; K, Diamond L.; A, Oski F.; T, Khaw K.","year":"1964","unstructured":"Shwachman H, Diamond L K, Oski F A, Khaw K T. The syndrome of pancreatic insufficiency and bone marrow dysfunction. JPediatr 1964; 65: 645-63.","journal-title":"JPediatr"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1001\/archinte.1970.00310020120017","article-title":"Pancreatic insufficiency and neutropenia with associated immunoglobulin deficit","volume":"125","author":"Hudson, E.; Alder, T.","year":"1970","unstructured":"Hudson E, Alder T. Pancreatic insufficiency and neutropenia with associated immunoglobulin deficit. Arch Intern Med 1970; 125: 314-6.","journal-title":"Arch Intern Med"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1177\/000992286800700715","article-title":"Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia, and thrombocytopenia","volume":"7","author":"Goldstein, R.","year":"1968","unstructured":"Goldstein R. Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia, and thrombocytopenia. Clin Pediatr (Phila) 1968; 7: 419-22.","journal-title":"Clin Pediatr (Phila)"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/adc.52.1.76","article-title":"Hepatic dysfunction in association with pancreatic insufficiency and cyclic neutropenia. ShwachmanDiamond syndrome","volume":"52","author":"J, Brueton M.; J, Mavromichalis; C, Goodchild M.; M, Anderson C.","year":"1977","unstructured":"Brueton M J, Mavromichalis J, Goodchild M C, Anderson C M. Hepatic dysfunction in association with pancreatic insufficiency and cyclic neutropenia. ShwachmanDiamond syndrome. Arch Dis Child 1977; 52: 76-8.","journal-title":"Arch Dis Child"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0022-3476(79)80578-8","article-title":"An inherited defect of neutrophil mobility in Shwachman's syndrome","volume":"94","author":"J, Aggett P.; T, Harries J.; M, Harvey B.A.; F, Soothill J.","year":"1979","unstructured":"Aggett P J, Harries J T, Harvey B A M, Soothill J F. An inherited defect of neutrophil mobility in Shwachman's syndrome. JPediatr 1979; 94: 391-4.","journal-title":"JPediatr"},{"key":"ref_18","first-page":"141","article-title":"Isoelectric focusing studies of human serum and tissue amylases","volume":"90","author":"D, Levitt M.; C, Ellis; R, Engel R.","year":"1977","unstructured":"Levitt M D, Ellis C, Engel R R. Isoelectric focusing studies of human serum and tissue amylases. J Lab Clin Med 1977; 90: 141-52.","journal-title":"J Lab Clin Med"},{"key":"ref_19","article-title":"Die pathologie der Kindlichen Pancreas","author":"Seifert, G.","year":"1956","unstructured":"Seifert G. Die pathologie der Kindlichen Pancreas. Leipzig: Thieme, 1956."},{"key":"ref_20","first-page":"20","volume":"18","author":"of Shwachman, G.Syndrome; leukaemia","year":"1977","unstructured":"G. Syndrome of Shwachman and leukaemia. Scand J Haematol 1977; 18: 20-4.","journal-title":"Scand J Haematol"},{"key":"ref_21","first-page":"402","volume-title":"Fetal hemoglobin. Mayo Clin Proc 1972","volume":"47","author":"A, Cooper H.; C, Hoagland H.","unstructured":"Cooper H A, Hoagland H C. Fetal hemoglobin. Mayo Clin Proc 1972; 47: 402-14."},{"key":"ref_22","first-page":"18","article-title":"Shwachman's syndrome and acute lymphoblastic leukaemia","volume":"ii:","author":"J, Strevens M.; S, Lilleyman J.; B, Williams R.","year":"1978","unstructured":"Strevens M J, Lilleyman J S, Williams R B. Shwachman's syndrome and acute lymphoblastic leukaemia. Br Med J 1978; ii: 18.","journal-title":"Br Med J"},{"issue":"282","key":"ref_23","first-page":"630","article-title":"Fettsucht und Atrophie der Bauchspeicheldriuse bei Jugendlichen","volume":"1931","author":"Hantelmann, W.","unstructured":"Hantelmann W. Fettsucht und Atrophie der Bauchspeicheldriuse bei Jugendlichen. Virchows Arch (Pathol Anat) 1931; 282: 630-42.","journal-title":"Virchows Arch (Pathol Anat)"},{"issue":"108","key":"ref_24","first-page":"51","article-title":"Metaphysare Dysostose und angeborene Pankreasinsuffizienz","volume":"1968","author":"Giedion, A.; Prader, A.; Hadorn, B.; H, Shmerling D.; Auricchio, S.","unstructured":"Giedion A, Prader A, Hadorn B, Shmerling D H, Auricchio S. Metaphysare Dysostose und angeborene Pankreasinsuffizienz. ROEFO 1968; 108: 51-7.","journal-title":"ROEFO"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/BF00973227","article-title":"Metaphyseal chondro-dysplasia with dwarfism, pancreatic insufficiency, and neutropenia","volume":"1","author":"Stanley, P.; Sutcliffe, J.","year":"1973","unstructured":"Stanley P, Sutcliffe J. Metaphyseal chondro-dysplasia with dwarfism, pancreatic insufficiency, and neutropenia. Pediatr Radiol 1973; 1: 119-26.","journal-title":"Pediatr Radiol"},{"key":"ref_26","first-page":"428","article-title":"Unusual bone changes in exocrine pancreatic insufficiency with cyclic neutropenia","volume":"12","author":"Fellman, K.; Kozlowski, K.; Senger, A.","year":"1972","unstructured":"Fellman K, Kozlowski K, Senger A. Unusual bone changes in exocrine pancreatic insufficiency with cyclic neutropenia. Acta Radiol [Diagn] (Stockh) 1972; 12: 428-32.","journal-title":"Acta Radiol [Diagn] (Stockh)"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1148\/112.1.167","article-title":"Shwachman's syndrome: the broad spectrum of bony abnormalities","volume":"112","author":"W, McLennan T.; L, Steinbach H.","year":"1974","unstructured":"McLennan T W, Steinbach H L. Shwachman's syndrome: the broad spectrum of bony abnormalities. Radiology 1974; 112: 167-73.","journal-title":"Radiology"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1136\/adc.51.9.697","article-title":"Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period","volume":"51","author":"M, Danks D.; R, Haslam; V, Mayne; J, Kaufmann H.; G, Holtzapple P.","year":"1976","unstructured":"Danks D M, Haslam R, Mayne V, Kaufmann H J, Holtzapple P G. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch Dis Child 1976; 51: 697-702.","journal-title":"Arch Dis Child"},{"key":"ref_29","first-page":"471","article-title":"Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism","volume":"29","author":"A, Spycher M.; A, Giedion; H, Shmerling D.; R, Ruttner J.","year":"1974","unstructured":"Spycher M A, Giedion A, Shmerling D H, Ruttner J R. Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism. Helv Paediatr Acta 1974; 29: 471-9.","journal-title":"Helv Paediatr Acta"},{"issue":"8","key":"ref_30","article-title":"Pediatric X-ray diagnosis","volume":"2","author":"Caffey, J.","year":"1973","unstructured":"Caffey J. Pediatric X-ray diagnosis. 6th ed, vol. 2, section 8. Chicago: Year Book Medical Publishers, 1973.","edition":"6th ed"},{"issue":"2","key":"ref_31","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1542\/peds.33.5.815","article-title":"The imprinting of nutritional disturbances on the growing bone","volume":"33","author":"A, Park E.","year":"1964","unstructured":"Park E A. The imprinting of nutritional disturbances on the growing bone. Pediatrics 1964; 33: Supplement 2, 815-62.","journal-title":"Pediatrics"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1136\/adc.48.2.143","article-title":"Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy","volume":"48","author":"Karjoo, M.; E, Koop C.; Cornfeld, D.; G, Holtzapple P.","year":"1973","unstructured":"Karjoo M, Koop C E, Cornfeld D, Holtzapple P G. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child 1973; 48: 143-6.","journal-title":"Arch Dis Child"},{"issue":"93","key":"ref_33","first-page":"563","article-title":"Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders","volume":"1969","author":"Taybi, H.; D, Mitchell A.; D, Friedman G.","unstructured":"Taybi H, Mitchell A D, Friedman G D. Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders. Radiology 1969; 93: 563-71.","journal-title":"Radiology"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1620\/tjem.92.1","article-title":"Pancreatic insufficiency with bone marrow dysfunction. ShwachmanDiamond-Oski-Khaw's syndrome","volume":"92","author":"Higashi 0, Hayashi T, Ohara K","year":"1967","unstructured":"Higashi 0, Hayashi T, Ohara K, et al, Pancreatic insufficiency with bone marrow dysfunction. ShwachmanDiamond-Oski-Khaw's syndrome. Tohuku J Exp Med 1967;92: 1-12.","journal-title":"Tohuku J Exp Med"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1651-2227.1967.tb05197.x","article-title":"Neutropenia and insufficiency of the exocrine pancreas","volume":"177","author":"Moller, E.; Olin, P.; Zetterstrom, R.","year":"1967","unstructured":"Moller E, Olin P, Zetterstrom R. Neutropenia and insufficiency of the exocrine pancreas. Acta Paediatr Scand (Suppl) 1967; Supplement 177, 29-31.","journal-title":"Acta Paediatr Scand (Suppl)"},{"key":"ref_36","first-page":"1125","article-title":"Two brothers with congenital pancreatic exocrine insufficiency","volume-title":"neutropenia, and dysgammaglobulinaemia. Proc R Soc Med","volume":"66","author":"F, Doe W.","year":"1973","unstructured":"Doe W F. Two brothers with congenital pancreatic exocrine insufficiency, neutropenia, and dysgammaglobulinaemia. Proc R Soc Med 1973; 66: 1125-6."},{"issue":"26","key":"ref_37","first-page":"861","article-title":"Insuffisance pancreatique externe avec granulopenie chronique","volume":"1969","author":"Saint-Martin, J.; P, Fournet J.; Charles, J.","unstructured":"Saint-Martin J, Fournet J P, Charles J, et al. Insuffisance pancreatique externe avec granulopenie chronique. Arch Fr Pediatr 1969; 26: 861-71.","journal-title":"Arch Fr Pediatr"},{"key":"ref_38","first-page":"551","article-title":"L'insuffisance pancreatique externe avec insuffisance medullaire hematopietique chez le nourisson et d'enfant","volume":"22","author":"Jeune, M.; Hermier, M.; Germain, D.","year":"1967","unstructured":"Jeune M, Hermier M, Germain D, et al. L'insuffisance pancreatique externe avec insuffisance medullaire hematopietique chez le nourisson et d'enfant. Syndrome de Shwachman. Pediatrie 1967; 22: 551-68.","journal-title":"Syndrome de Shwachman. Pediatrie"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0140-6736(74)92382-4","article-title":"Intelligence after malnutrition caused by neonatal resection of ileum","volume":"i:","author":"B, Valman H.","year":"1974","unstructured":"Valman H B. Intelligence after malnutrition caused by neonatal resection of ileum. Lancet 1974; i: 425-7.","journal-title":"Lancet"},{"key":"ref_40","first-page":"354","article-title":"Diseases of the retina and vitreous","author":"Tasman, W.","year":"1975","unstructured":"Tasman W. Diseases of the retina and vitreous. In: Harley R D, ed. Pediatric ophthalmology. Philadelphia: Saunders, 1975: 354."},{"key":"ref_41","article-title":"Photosensitive epilepsy. Clinics in Developmental Medicine No. 56","volume":"58","author":"M, Jeavons P.; A, Harding G.F.","year":"1975","unstructured":"Jeavons P M, Harding G F A. Photosensitive epilepsy. Clinics in Developmental Medicine No. 56. London: Heinemann Medical, 1975: 58."},{"key":"ref_42","first-page":"3","article-title":"Some clinical observations on the Shwachman syndrome (pancreatic insufficiency and bone marrow hypoplasia)","volume":"8","author":"Shwachman, H.; Holsclaw, D.","year":"1972","unstructured":"Shwachman H, Holsclaw D. Some clinical observations on the Shwachman syndrome (pancreatic insufficiency and bone marrow hypoplasia). Birth Defects 1972; 8: Pt 3,46-9.","journal-title":"Birth Defects"},{"key":"ref_43","first-page":"776","article-title":"Syndrome of pancreatic insufficiency, blood dyscrasia","volume-title":"and metaphyseal dysostosis. Proc R Soc Med 1968","volume":"61","author":"M, Pringle E.; F, Young W.; M, Haworth E.","unstructured":"Pringle E M, Young W F, Haworth E M. Syndrome of pancreatic insufficiency, blood dyscrasia, and metaphyseal dysostosis. Proc R Soc Med 1968; 61: 776-7."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/S0022-3476(71)80194-4","article-title":"A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption","volume":"79","author":"Johanson, A.; Blizzard, R.","year":"1971","unstructured":"Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 1971; 79: 982-7.","journal-title":"J Pediatr"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/S0022-3476(76)80806-2","article-title":"Exocrine pancreatic insufficiency with congenital abnormalities","volume":"89","author":"Schussheim, A.; J, Choi S.; Silverberg, M.","year":"1976","unstructured":"Schussheim A, Choi S J, Silverberg M. Exocrine pancreatic insufficiency with congenital abnormalities. J Pediatr 1976; 89: 782-4.","journal-title":"J Pediatr"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0022-3476(75)80592-0","article-title":"Pancreatic insufficiency and the congenital rubella syndrome","volume":"87","author":"Donowitz, M.; D, Gryboski J.","year":"1975","unstructured":"Donowitz M, Gryboski J D. Pancreatic insufficiency and the congenital rubella syndrome. JPediatr 1975; 87: 241-2.","journal-title":"JPediatr"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/0002-9343(66)90094-5","article-title":"Unusual case of XXY Klinefelter's syndrome, with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism, and microcephaly","volume":"41","author":"J, Grand R.; W, Rosen S.; A, Di Sant'Agnese P.; R, Kirkham W.","year":"1966","unstructured":"Grand R J, Rosen S W, Di Sant'Agnese P A, Kirkham W R. Unusual case of XXY Klinefelter's syndrome, with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism, and microcephaly. Am J Med 1966; 41: 478-85.","journal-title":"Am J Med"},{"key":"ref_48","first-page":"285","article-title":"Dwarfism in the Amish. II. Cartilage-hair hypoplasia","volume":"116","author":"A, McKusick V.; R, Eldridge; A, Hostetler J.; V, Ruangwit; A, Egeland J.","year":"1965","unstructured":"McKusick V A, Eldridge R, Hostetler J A, Ruangwit V, Egeland J A. Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Johns Hopkins MedJ 1965; 116: 285-326.","journal-title":"Johns Hopkins MedJ"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1651-2227.1967.tb15995.x","article-title":"The syndrome of congenital pancreatic insufficiency, chronic respiratory disease, and chronic liver damage","volume":"56","year":"1967","unstructured":"Havlik6va D, Vychytil 0, Jelinek J. The syndrome of congenital pancreatic insufficiency, chronic respiratory disease, and chronic liver damage. Acta Paediatr Scand 1967; 56: 676-80.","journal-title":"Acta Paediatr Scand"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1302\/0301-620X.45B2.364","article-title":"An unusual case of metaphyseal dyschondroplasia","volume":"45","author":"D, Theodorou S.; J, Adams","year":"1963","unstructured":"Theodorou S D, Adams J. An unusual case of metaphyseal dyschondroplasia. J Bone Joint Surg (Br) 1963; 45: 364-9.","journal-title":"J Bone Joint Surg (Br)"},{"key":"ref_51","first-page":"43","article-title":"Hypoplasie du pancreas exocrine. Fibrose myoendocardique associee chez l'un des deux freres observes","volume":"16","author":"Sacrez, R.; Klein, F.; Hoffman, B.; M, Levy J.; Geisert, J.; Korn, R.","year":"1969","unstructured":"Sacrez R, Klein F, Hoffman B, Levy J M, Geisert J, Korn R. Hypoplasie du pancreas exocrine. Fibrose myoendocardique associee chez l'un des deux freres observes. Ann Pediatr 1969; 16: 43-8."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1083\/jcb.75.2.559","article-title":"Distribution and control of microtubules in relation to the transport of lipid","volume":"75","author":"P, Reaven E.; A, Reaven G.","year":"1977","unstructured":"Reaven E P, Reaven G A. Distribution and control of microtubules in relation to the transport of lipid. J Cell Biol 1977; 75: 559-72.","journal-title":"J Cell Biol"},{"key":"ref_53","first-page":"4102","article-title":"Inhibition of the transport of several hexoses in mammalian cells by cytochalasin B","volume":"247","author":"B, Mizel S.; L, Wilson","year":"1974","unstructured":"Mizel S B, Wilson L. Inhibition of the transport of several hexoses in mammalian cells by cytochalasin B. J Biol Chem 1974; 247: 4102-5.","journal-title":"J Biol Chem"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1083\/jcb.75.3.666","article-title":"Structural analysis of human neutrophil migration","volume":"75","author":"L, Malech H.; K, Root R.; I, Gallin J.","year":"1977","unstructured":"Malech H L, Root R K, Gallin J I. Structural analysis of human neutrophil migration. J Cell Biol 1977; 75: 666-93.","journal-title":"J Cell Biol"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1056\/NEJM197503062921007","article-title":"The cell surface","volume":"292","author":"D, Berlin R.; M, Oliver J.; E, Ukena T.; H, Yin H.","year":"1975","unstructured":"Berlin R D, Oliver J M, Ukena T E, Yin H H. The cell surface. N EnglJ Med 1975; 292: 515-20.","journal-title":"N EnglJ Med"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2941","DOI":"10.1172\/JCI107118","article-title":"Histamine release from human leukocytes: studies with deuterium oxide, colchicine, and cytochalasin B","volume":"51","author":"Gillespie, E.; M, Lichtenstein L.","year":"1972","unstructured":"Gillespie E, Lichtenstein L M. Histamine release from human leukocytes: studies with deuterium oxide, colchicine, and cytochalasin B. J Clin Invest 1972; 51: 2941-7.","journal-title":"J Clin Invest"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"257","DOI":"10.2337\/diab.20.5.257","article-title":"The stimulus-secretion coupling of glucose-induced insulin release. V. The participation of a microtubularmicrofilamentous system","volume":"20","year":"1971","unstructured":"Malaisse W J, Malaisse-Lagae F, Walker M 0, Lacy P E. The stimulus-secretion coupling of glucose-induced insulin release. V. The participation of a microtubularmicrofilamentous system. Diabetes 1971; 20: 257-65.","journal-title":"Diabetes"},{"key":"ref_58","first-page":"229","article-title":"The role of microtubules and microfilaments in thyroid secretion","volume":"29","author":"Wolff, J.; A, Williams J.","year":"1973","unstructured":"Wolff J, Williams J A. The role of microtubules and microfilaments in thyroid secretion. Recent Prog Horm Res 1973; 29: 229-86.","journal-title":"Recent Prog Horm Res"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1083\/jcb.77.2.400","article-title":"In vivo effect of colchicine on hepatic protein synthesis and on the conversion of proalbumin to serum albumin","volume":"77","author":"M, Redman C.; D, Banerjee; C, Manning; Y, Huang C.; K, Green","year":"1978","unstructured":"Redman C M, Banerjee D, Manning C, Huang C Y, Green K. In vivo effect of colchicine on hepatic protein synthesis and on the conversion of proalbumin to serum albumin. J Cell Biol 1978; 77: 400-16.","journal-title":"J Cell Biol"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1083\/jcb.62.2.390","article-title":"Effects of antimicrotubular agents on the secretion of collagen; a biochemical and morphological study","volume":"62","author":"P, Ehrich H.; R, Ross; P, Bornstein","year":"1974","unstructured":"Ehrich H P, Ross R, Bornstein P. Effects of antimicrotubular agents on the secretion of collagen; a biochemical and morphological study. J Cell Biol 1974; 62: 390-405.","journal-title":"J Cell Biol"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1083\/jcb.71.3.795","article-title":"Microtubules and pancreatic amylase release by mouse pancreas in vitro","volume":"71","author":"A, Williams J.; M, Lee","year":"1976","unstructured":"Williams J A, Lee M. Microtubules and pancreatic amylase release by mouse pancreas in vitro. J Cell Biol 1976; 71: 795-806.","journal-title":"J Cell Biol"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1073\/pnas.69.2.520","article-title":"Inhibition of release of dopamine-,-hydroxylase and norepinephrine from sympathetic nerves by colchicine, vinblastine, or cytochalasin B","volume":"69","author":"B, Thoa N.; F, Wooten G.; J, Axelrod; J, Kopin I.","year":"1972","unstructured":"Thoa N B, Wooten G F, Axelrod J, Kopin I J. Inhibition of release of dopamine-,-hydroxylase and norepinephrine from sympathetic nerves by colchicine, vinblastine, or cytochalasin B. Proc Natl Acad Sci USA 1972; 69: 520-2.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1136\/adc.52.11.887","article-title":"Test meal for assessing intraluminal phase of absorption in childhood","volume":"52","author":"K, McCollum J.P.; R, Muller D.P.; T, Harries J.","year":"1977","unstructured":"McCollum J P K, Muller D P R, Harries J T. Test meal for assessing intraluminal phase of absorption in childhood. Arch Dis Child 1977; 52: 887-9.","journal-title":"Arch Dis Child"},{"key":"ref_64","first-page":"125","article-title":"Diseases of the pancreas in children","volume":"1","author":"Hadorn, B.","year":"1972","unstructured":"Hadorn B. Diseases of the pancreas in children. Clin Gastroenterol 1972; 1: 125-46.","journal-title":"Clin Gastroenterol"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.55.5.331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:43:30Z","timestamp":1684813410000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.55.5.331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,5,1]]},"references-count":64,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1980,5,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.55.5.331","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,5,1]]}}}