{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T18:51:14Z","timestamp":1767034274720},"publisher-location":"Berlin, Heidelberg","reference-count":35,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783642177071"},{"type":"electronic","value":"9783642177088"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/8904_2011_26","type":"book-chapter","created":{"date-parts":[[2011,8,1]],"date-time":"2011-08-01T05:12:29Z","timestamp":1312175549000},"page":"117-123","source":"Crossref","is-referenced-by-count":12,"title":["The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations"],"prefix":"10.1007","author":[{"given":"B.","family":"P\u00e9rez","sequence":"first","affiliation":[]},{"given":"P.","family":"Briones","sequence":"additional","affiliation":[]},{"given":"D.","family":"Quelhas","sequence":"additional","affiliation":[]},{"given":"R.","family":"Artuch","sequence":"additional","affiliation":[]},{"given":"A. I.","family":"Vega","sequence":"additional","affiliation":[]},{"given":"E.","family":"Quintana","sequence":"additional","affiliation":[]},{"given":"L.","family":"Gort","sequence":"additional","affiliation":[]},{"given":"M. J.","family":"Ecay","sequence":"additional","affiliation":[]},{"given":"G.","family":"Matthijs","sequence":"additional","affiliation":[]},{"given":"M.","family":"Ugarte","sequence":"additional","affiliation":[]},{"given":"C.","family":"P\u00e9rez-Cerd\u00e1","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2011,6,22]]},"reference":[{"issue":"6","key":"26_CR1_26","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1038\/sj.ejhg.5200234","volume":"6","author":"C Bjursell","year":"1998","unstructured":"Bjursell C, Wahlstrom J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1998) Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur J Hum Genet 6(6):603\u2013611","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"26_CR2_26","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1002\/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T","volume":"16","author":"C Bjursell","year":"2000","unstructured":"Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlstrom J, Stibler H, Kristiansson B, Martinsson T (2000) PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum Mutat 16(5):395\u2013400","journal-title":"Hum Mutat"},{"issue":"8","key":"26_CR3_26","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1023\/A:1022825113506","volume":"25","author":"P Briones","year":"2002","unstructured":"Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E et al (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 25(8):635\u2013646","journal-title":"J Inherit Metab Dis"},{"issue":"10","key":"26_CR4_26","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1515\/CCLM.2000.143","volume":"38","author":"C Colome","year":"2000","unstructured":"Colome C, Ferrer I, Artuch R, Vilaseca MA, Pineda M, Briones P (2000) Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation. Clin Chem Lab Med 38(10):965\u2013969","journal-title":"Clin Chem Lab Med"},{"issue":"3","key":"26_CR5_26","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/sj.ejhg.5200312","volume":"7","author":"LR Desviat","year":"1999","unstructured":"Desviat LR, Perez B, Gamez A, Sanchez A, Garcia MJ, Martinez-Pardo M, Marchante C, Boveda D, Baldellou A, Arena J et al (1999) Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet 7(3):386\u2013392","journal-title":"Eur J Hum Genet"},{"issue":"1\u20132","key":"26_CR6_26","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1006\/mgme.2000.3052","volume":"71","author":"KM Dipple","year":"2000","unstructured":"Dipple KM, McCabe ER (2000) Modifier genes convert \u201csimple\u201d Mendelian disorders to complex traits. Mol Genet Metab 71(1\u20132):43\u201350","journal-title":"Mol Genet Metab"},{"issue":"5","key":"26_CR7_26","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1007\/s004390100489","volume":"108","author":"A Erlandson","year":"2001","unstructured":"Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlstrom J, Martinsson T (2001) Scandinavian CDG-Ia patients: genotype\/phenotype correlation and geographic origin of founder mutations. Hum Genet 108(5):359\u2013367","journal-title":"Hum Genet"},{"issue":"8","key":"26_CR8_26","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/S0300-9084(01)01292-5","volume":"83","author":"HH Freeze","year":"2001","unstructured":"Freeze HH, Westphal V (2001) Balancing N-linked glycosylation to avoid disease. Biochimie 83(8):791\u2013799","journal-title":"Biochimie"},{"issue":"6","key":"26_CR9_26","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1007\/s10545-006-0356-2","volume":"29","author":"L Gort","year":"2006","unstructured":"Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Giros M, Briones P (2006) Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inherit Metab Dis 29(6):739\u2013742","journal-title":"J Inherit Metab Dis"},{"issue":"18","key":"26_CR10_26","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.medcli.2008.11.031","volume":"132","author":"L Gort","year":"2009","unstructured":"Gort L, Quintana E, Moliner S, Gonzalez-Quereda L, Lopez-Hernandez T, Briones P (2009) An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families. Med Clin (Barc) 132(18):709\u2013711","journal-title":"Med Clin (Barc)"},{"issue":"9","key":"26_CR11_26","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1016\/j.bbadis.2009.01.003","volume":"1792","author":"S Grunewald","year":"2009","unstructured":"Grunewald S (2009) The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta 1792(9):827\u2013834","journal-title":"Biochim Biophys Acta"},{"issue":"12","key":"26_CR12_26","doi-asserted-by":"publisher","first-page":"1628","DOI":"10.1002\/humu.21126","volume":"30","author":"MA Haeuptle","year":"2009","unstructured":"Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628\u20131641","journal-title":"Hum Mutat"},{"issue":"2","key":"26_CR13_26","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1023\/A:1005669900330","volume":"23","author":"F Imtiaz","year":"2000","unstructured":"Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis 23(2):162\u2013174","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"26_CR14_26","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1023\/A:1005331523477","volume":"20","author":"J Jaeken","year":"1997","unstructured":"Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E et al (1997) Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 20(3):447\u2013449","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"26_CR15_26","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/sj.ejhg.5200194","volume":"6","author":"S Kjaergaard","year":"1998","unstructured":"Kjaergaard S, Skovby F, Schwartz M (1998) Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 6(4):331\u2013336","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"26_CR16_26","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1038\/sj.ejhg.5200398","volume":"7","author":"S Kjaergaard","year":"1999","unstructured":"Kjaergaard S, Skovby F, Schwartz M (1999) Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet 7(8):884\u2013888","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"26_CR17_26","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/humu.9336","volume":"25","author":"C Bizec Le","year":"2005","unstructured":"Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupre T, Durand G, Seta N (2005) A new insight into PMM2 mutations in the French population. Hum Mutat 25(5):504\u2013505","journal-title":"Hum Mutat"},{"issue":"5","key":"26_CR18_26","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1007\/s004390051132","volume":"105","author":"J Mallolas","year":"1999","unstructured":"Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Mila M (1999) Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. Hum Genet 105(5):468\u2013473","journal-title":"Hum Genet"},{"issue":"9","key":"26_CR19_26","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/S0968-0004(00)01629-7","volume":"25","author":"G Matthijs","year":"2000","unstructured":"Matthijs G (2000) Congenital disorders of glycosylation. Trends Biochem Sci 25(9):428","journal-title":"Trends Biochem Sci"},{"issue":"1","key":"26_CR20_26","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ng0597-88","volume":"16","author":"G Matthijs","year":"1997","unstructured":"Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16(1):88\u201392","journal-title":"Nat Genet"},{"issue":"3","key":"26_CR21_26","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1086\/301763","volume":"62","author":"G Matthijs","year":"1998","unstructured":"Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J (1998) Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 62(3):542\u2013550","journal-title":"Am J Hum Genet"},{"issue":"2","key":"26_CR22_26","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1006\/mgme.1999.2914","volume":"68","author":"G Matthijs","year":"1999","unstructured":"Matthijs G, Schollen E, Heykants L, Grunewald S (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab 68(2): 220\u2013226","journal-title":"Mol Genet Metab"},{"issue":"5","key":"26_CR23_26","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1002\/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y","volume":"16","author":"G Matthijs","year":"2000","unstructured":"Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N et al (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16(5):386\u2013394","journal-title":"Hum Mutat"},{"issue":"1","key":"26_CR24_26","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1373\/clinchem.2007.093450","volume":"54","author":"C P\u00e9rez-Cerd\u00e1","year":"2008","unstructured":"P\u00e9rez-Cerd\u00e1 C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M (2008) Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Clin Chem 54(1):93\u2013100","journal-title":"Clin Chem"},{"issue":"5","key":"26_CR25_26","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1016\/j.ejpn.2008.09.002","volume":"13","author":"B Perez-Duenas","year":"2009","unstructured":"Perez-Duenas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P et al (2009) Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol 13(5):444\u2013451","journal-title":"Eur J Paediatr Neurol"},{"issue":"3","key":"26_CR26_26","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S0014-5793(99)00673-0","volume":"452","author":"M Pirard","year":"1999","unstructured":"Pirard M, Matthijs G, Heykants L, Schollen E, Grunewald S, Jaeken J, van Schaftingen E (1999) Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett 452(3):319\u2013322","journal-title":"FEBS Lett"},{"issue":"Pt 3","key":"26_CR27_26","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1111\/j.1469-1809.2006.00334.x","volume":"71","author":"D Quelhas","year":"2007","unstructured":"Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L (2007) Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Ann Hum Genet 71(Pt 3):348\u2013353","journal-title":"Ann Hum Genet"},{"issue":"4\u20135","key":"26_CR28_26","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.clinbiochem.2008.12.013","volume":"42","author":"E Quintana","year":"2009","unstructured":"Quintana E, Navarro-Sastre A, Hernandez-Perez JM, Garcia-Villoria J, Montero R, Artuch R, Ribes A, Briones P (2009) Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). Clin Biochem 42(4\u20135):408\u2013415","journal-title":"Clin Biochem"},{"issue":"5","key":"26_CR29_26","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/sj.ejhg.5200470","volume":"8","author":"E Schollen","year":"2000","unstructured":"Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 8(5):367\u2013371","journal-title":"Eur J Hum Genet"},{"key":"26_CR30_26","doi-asserted-by":"crossref","unstructured":"Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G (2007a) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 90(4):408\u2013413","DOI":"10.1016\/j.ymgme.2007.01.003"},{"issue":"4","key":"26_CR31_26","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.ymgme.2007.01.003","volume":"90","author":"E Schollen","year":"2007","unstructured":"Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G (2007b) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 90(4):408\u2013413","journal-title":"Mol Genet Metab"},{"issue":"21","key":"26_CR32_26","doi-asserted-by":"publisher","first-page":"14918","DOI":"10.1074\/jbc.M601505200","volume":"281","author":"NR Silvaggi","year":"2006","unstructured":"Silvaggi NR, Zhang C, Lu Z, Dai J, Dunaway-Mariano D, Allen KN (2006) The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. J Biol Chem 281(21):14918\u201314926","journal-title":"J Biol Chem"},{"issue":"3","key":"26_CR33_26","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/0014-5793(95)01357-1","volume":"377","author":"E Schaftingen Van","year":"1995","unstructured":"Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377(3):318\u2013320","journal-title":"FEBS Lett"},{"issue":"5","key":"26_CR34_26","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1002\/humu.20960","volume":"30","author":"AI Vega","year":"2009","unstructured":"Vega AI, P\u00e9rez-Cerd\u00e1 C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30(5):795\u2013803","journal-title":"Hum Mutat"},{"key":"26_CR35_26","doi-asserted-by":"crossref","unstructured":"Vega AI, P\u00e9rez-Cerd\u00e1 C, Abia D, G\u00e1mez A, Briones P, Artuch A, Desviat LR, Ugarte M, and P\u00e9rez B (2011) Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency-congenital disorder of glycosylation. J Inherit Metab Dis 2011 May 4 [Epub ahead of print]","DOI":"10.1007\/s10545-011-9328-2"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2011\/1"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_26","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T12:29:29Z","timestamp":1560428969000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_26"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"ISBN":["9783642177071","9783642177088"],"references-count":35,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_26","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2011]]}}}