{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T10:36:05Z","timestamp":1778841365905,"version":"3.51.4"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0551_s_999_w2aab3b7c29b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency has been recognized as a cause of the congenital disorders of glycosylation (CDGs).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0551_s_998_w2aab3b7c29b1b6b1aab1c16b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Two Chinese Han pediatric patients with recurrent hypoglycemia, hepatopathy and growth retardation are described in this study. Targeted gene sequencing (TGS) was performed to screen for causal genetic variants in the genome of the patients and their parents to determine the genetic basis of the phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0551_s_997_w2aab3b7c29b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>DNA sequencing identified three variations of the <jats:italic>PGM1<\/jats:italic> gene (NM_002633.2). Patient 1 had a novel homozygous mutation (c.119delT, p.Ile40Thrfs*28). In patient 2, we found a compound heterozygous mutation of c.1172G&gt;T(p.Gly391Val) (novel) and c.1507C&gt;T(p.Arg503*) (known pathogenic).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0551_s_996_w2aab3b7c29b1b6b1aab1c16b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This report deepens our understanding of the clinical features of <jats:italic>PGM1<\/jats:italic> mutation. The early molecular genetic analysis and multisystem assessment were here found to be essential to the diagnosis of PGM1-CDG and the provision of timely and proper treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0551","type":"journal-article","created":{"date-parts":[[2018,6,2]],"date-time":"2018-06-02T22:16:58Z","timestamp":1527977818000},"page":"781-788","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (<i>PGM1<\/i>) gene"],"prefix":"10.1515","volume":"31","author":[{"given":"Yu","family":"Ding","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism , Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niu","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Translational Medicine, Shanghai Children\u2019s Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gouying","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruen","family":"Yao","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Translational Medicine, Shanghai Children\u2019s Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Translational Medicine, Shanghai Children\u2019s Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"},{"name":"Boston Children\u2019s Hospital , Boston, MA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Translational Medicine, Shanghai Children\u2019s Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiumin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,6,2]]},"reference":[{"key":"2023040100083365984_j_jpem-2017-0551_ref_001_w2aab3b7c29b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, et al. 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