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- [1] A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 geneJOURNAL OF INHERITED METABOLIC DISEASE, 2013, 36 (03) : 535 - 542Perez, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainMedrano, Celia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainJesus Ecay, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainRuiz-Sala, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainMartinez-Pardo, Mercedes论文数: 0 引用数: 0 h-index: 0机构: Hosp Ramon & Cajal, Unidad Metabolopatias, Serv Pediat, E-28034 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainUgarte, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, SpainPerez-Cerda, Celia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, E-28049 Madrid, Spain Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, Ctr Biol Mol UAM CSIC,IDIPaz, Ctr Invest Biomed Red Enfermedades Raras CIBERER, E-28049 Madrid, Spain
- [2] Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 geneNEUROLOGIA, 2019, 34 (02): : 138 - 140Ibanez-Mico, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, Spain Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, SpainDomingo Jimenez, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, Spain Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, SpainPerez-Cerda, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, SpainGhandour-Fabre, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, Spain Hosp Virgen Arrixaca, Serv Pediat, Secc Neuropediat, Murcia, Spain
- [3] Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8JOURNAL OF AAPOS, 2019, 23 (06): : 351 - 352Schweigert, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Ophthalmol & Visual Neurosci, Minneapolis, MN USA Univ Minnesota, Dept Ophthalmol & Visual Neurosci, Minneapolis, MN USAAreaux, Raymond G., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Ophthalmol & Visual Neurosci, Minneapolis, MN USA Univ Minnesota, Dept Ophthalmol & Visual Neurosci, Minneapolis, MN USA
- [4] Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3AJOURNAL OF CHILD NEUROLOGY, 2017, 32 (06) : 560 - 565Ghosh, Arunabha论文数: 0 引用数: 0 h-index: 0机构: Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, EnglandUrquhart, Jill论文数: 0 引用数: 0 h-index: 0机构: Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, EnglandDaly, Sarah论文数: 0 引用数: 0 h-index: 0机构: Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, EnglandFerguson, Anne论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, Community Paediat, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, EnglandScotcher, Diana论文数: 0 引用数: 0 h-index: 0机构: Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, EnglandMorris, Andrew A. M.论文数: 0 引用数: 0 h-index: 0机构: Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England论文数: 引用数: h-index:机构:
- [5] MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfJOURNAL OF CLINICAL INVESTIGATION, 2001, 108 (11): : 1687 - 1695Schenk, B论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandImbach, T论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandFrank, CG论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandGrubenmann, CE论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandRaymond, GV论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandHurvitz, H论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandRaas-Rotschild, A论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandLuder, AS论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandJaeken, J论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandBerger, EG论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandMatthijs, G论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandHennet, T论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, SwitzerlandAebi, M论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Microbiol, Zurich, Switzerland
- [6] A Novel Congenital Disorder of Glycosylation, AGM1-CDG, with T-B-NK plus SCID, Neutropenia and Skeletal Dysplasia, Caused by Mutations in the Gene Encoding Phosphoacetylglucosamine Mutase 1JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (03) : 366 - 367Chokshi, Niti论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Baylor Hopkins Ctr Mendelian Genom, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USASorte, Hanne论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Morkid, Lars论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAErichsen, Hans Christian论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Pediat, Oslo, Norway Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAGambin, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Baylor Hopkins Ctr Mendelian Genom, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USARaymond, Kimiyo论文数: 0 引用数: 0 h-index: 0机构: Mayo Coll Med, Dept Lab Med & Pathol, Rochester, MN USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAAbraham, Shirley论文数: 0 引用数: 0 h-index: 0机构: Univ New Mexico, Albuquerque, NM 87131 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAKrance, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Hematol Oncol Sect, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAMerckoll, Else论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Radiol, Oslo, Norway Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USANishimura, Gen论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Radiol, Tokyo, Japan Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Baylor Hopkins Ctr Mendelian Genom, Houston, TX 77030 USA Baylor Coll Med, Med Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAOrange, Jordan S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USALausch, Ekkehart论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg Klinikum, Sekt Padiat Genet, Freiburg, Germany Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAHanson, Imelda Celine论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA
- [7] A new congenital disorder of glycosylation is due to mutations in FucokinaseGLYCOBIOLOGY, 2016, 26 (12) : 1421 - 1421Ng, Bobby G.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USARosenfeld, Jill论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USAEmrick, Lisa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USAJain, Mahim论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Dept Pediat, Baltimore, MD USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USABurrage, Lindsay论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USAGraham, Brett H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USAFreeze, Hudson H.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USA Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USA
- [8] Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1460 - 1465Bryant, Emily M.论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAMillichap, John J.论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USASpinelli, Egidio论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USACalhoun, Jeffrey D.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAMiller, Christopher论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAGiannelli, Jessica论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAWolak, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USASanders, Victoria论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USACarvill, Gemma L.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USACharrow, Joel论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
- [9] Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 MutationsPEDIATRICS, 2012, 130 (04) : E1034 - E1039论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Lefeber, Dirk J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsJanecke, Andreas R.论文数: 0 引用数: 0 h-index: 0机构: Innsbruck Med Univ, Dept Pediat 2, Innsbruck, Austria Innsbruck Med Univ, Div Human Genet, Innsbruck, Austria Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsSchmidt, Wolfgang M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Neuromuscular Res Dept, Ctr Anat & Cell Biol, Vienna, Austria Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsLechner, Silvia论文数: 0 引用数: 0 h-index: 0机构: Innsbruck Med Univ, Div Human Genet, Innsbruck, Austria Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsItem, Chike B.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsSykut-Cegielska, Jolanta论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Metab Dis, Warsaw, Poland Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsAdamowicz, Maciej论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Metab Dis, Warsaw, Poland Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:Zhang, Zong H.论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Inst, Singapore, Singapore Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsMihalek, Ivana论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Inst, Singapore, Singapore Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsStockler, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, British Columbia Childrens Hosp, Div Biochem Dis, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, British Columbia Childrens Hosp, Div Pediat Neurol, Vancouver, BC V5Z 1M9, Canada Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsBodamer, Olaf A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Dept Human Genet, Div Clin & Translat Genet & Genom, Miller Sch Med, Coral Gables, FL 33124 USA Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsLehle, Ludwig论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Cell Biol & Plant Biochem, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Lab Genet Endocrine & Metab Dis, Dept Lab Med, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands
- [10] Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of GlycosylationFRONTIERS IN GENETICS, 2020, 11Wang, Xi论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaHan, Lin论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaWang, Xiao-Yan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaWang, Jian-Hong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaLi, Xiao-Meng论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaJin, Chun-Hua论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R ChinaWang, Lin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China Childrens Hosp, Capital Inst Pediat, Dept Prevent Hlth Care, Beijing, Peoples R China