{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:15:25Z","timestamp":1777803325552,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[1994,1,1]],"date-time":"1994-01-01T00:00:00Z","timestamp":757382400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:p>Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and\/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of the microdeletion syndrome but not of the isolated enzyme defect. We report a case of isolated glycerol kinase deficiency in a neonate presenting with hypotonia, apnea, mild developmental delay, and glyceroluria, without evidence of adrenal insufficiency or myopathy. A mild communicating hydrocephalus was noted on magnetic resonance imaging brain scan. It is important, therefore, to exclude glyceroluria in infants being investigated for apnea and hypotonia. (J Child Neurol 1994;9:70-73).<\/jats:p>","DOI":"10.1177\/088307389400900118","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"70-73","source":"Crossref","is-referenced-by-count":6,"title":["Isolated Glycerol Kinase Deficiency in a Neonate"],"prefix":"10.1177","volume":"9","author":[{"given":"Barry","family":"Lewis","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Harbord","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ross","family":"Keenan","sequence":"additional","affiliation":[{"name":"Department of Radiology The Women's and Children's Hospital, North Adelaide"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Flinders Medical Centre, Bedford Park, South Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyn","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1994,1,1]]},"reference":[{"key":"atypb1","unstructured":"McCabe ER : Disorders of glycerol metabolism, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill , 1989, pp 945-961."},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310315"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286703"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360106"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201848"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb11936.x"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80956-7"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/29.4.718"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108914"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90171-1"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1984.tb02096.x"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1068916"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(77)91437-1"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070509"},{"key":"atypb15","first-page":"212","volume":"40","author":"Francke U.","year":"1987","journal-title":"Am J Hum Genet"},{"key":"atypb16","first-page":"744","volume":"141","author":"Wise JE","year":"1987","journal-title":"Am J Dis Child"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290313"},{"key":"atypb18","volume-title":"Duchenne Muscular Dystrophy: Oxford Monographs on Medical Genetics","author":"Emery AE","year":"1987"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1126\/science.3347839"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(88)90047-1"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90921-7"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(83)90088-1"},{"key":"atypb23","doi-asserted-by":"crossref","unstructured":"McCabe ER , Seltzer WK: Glycerol kinase deficiency: Compartmental considerations regarding pathogenesis and clinical heterogeneity, in Brautbar N (ed): Myocardial and Skeletal Muscle Bioenergetics. New York, Plenum, 1986, pp 481-493.","DOI":"10.1007\/978-1-4684-5107-8_36"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1007\/BF00420928"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389400900118","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389400900118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:51Z","timestamp":1777494951000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307389400900118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["10.1177\/088307389400900118"],"URL":"https:\/\/doi.org\/10.1177\/088307389400900118","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}