{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T10:36:19Z","timestamp":1785753379417,"version":"3.56.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T00:00:00Z","timestamp":1435190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muscle phosphofructokinase (<jats:styled-content style=\"fixed-case\">PFK<\/jats:styled-content>) deficiency is a rare autosomal recessive disease. We report the case of a preterm female infant who was diagnosed with the infantile form of phosphofructokinase deficiency due to a lack of <jats:styled-content style=\"fixed-case\">PFK<\/jats:styled-content> activity in her muscles, manifesting at a corrected age of 1 month as floppy infant syndrome, congenital joint contracture, cleft palate and duplication of the pelvicalyceal system. She died at a corrected age of 6 months due to respiratory failure. We further reviewed other infantile cases in the literature. Congenital hypotonia (78.6%), arthrogryposis (64.3%) and other systemic involvement including encephalopathy (35.7%) and cardiomyopathy (21.4%) are common presentations of the infantile form of <jats:styled-content style=\"fixed-case\">PFK<\/jats:styled-content> deficiency. The overall survival rate of the infantile form is low. The early recognition of multiple system involvement is essential to provide better clinical care for infants with the infantile form of <jats:styled-content style=\"fixed-case\">PFK<\/jats:styled-content> deficiency.<\/jats:p>","DOI":"10.1111\/ped.12616","type":"journal-article","created":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T07:07:40Z","timestamp":1435216060000},"page":"746-749","source":"Crossref","is-referenced-by-count":5,"title":["Infantile form of muscle phosphofructokinase deficiency in a premature neonate"],"prefix":"10.1111","volume":"57","author":[{"given":"Pei\u2010Ling","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Pediatrics E\u2010DA Hospital School of Medicine, College of Medicine I\u2010Shou University  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yung\u2010Ning","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics E\u2010DA Hospital School of Medicine, College of Medicine I\u2010Shou University  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010Leei","family":"Tey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics E\u2010DA Hospital School of Medicine, College of Medicine I\u2010Shou University  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun\u2010Hwa","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics E\u2010DA Hospital School of Medicine, College of Medicine I\u2010Shou University  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"San\u2010Nan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics E\u2010DA Hospital School of Medicine, College of Medicine I\u2010Shou University  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien\u2010Seng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Emergency and Critical Care Medicine Cheng Hsin Rehabilitation Medical Center  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,25]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"1105","article-title":"Familial congenital muscular dystrophy caused by phosphofructokinase deficiency","volume":"35","author":"Guibaud P","year":"1978","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1303"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.11.1465"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00262858"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880150406"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.560310.x"},{"key":"e_1_2_4_8_1","first-page":"15","article-title":"Fetal akinesia sequence caused by glycogenosis type VII","volume":"6","author":"Moerman P","year":"1995","journal-title":"Genet. 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