共 5 条
Pulmonary Failure as Presentation of Griscelli Syndrome Type 2
被引:0
作者:

Fogsgaard, Stine Fischer
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Jensen, Jens Magnus Bernth
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark
AUH, Dept Mol Med, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Glerup, Mia
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Paediat & Adolescent Med, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Thim, Signe Bodker
论文数: 0 引用数: 0
h-index: 0
机构:
AUH, Danish Ctr Pediat Pulmonol & Allergol, Dept Pediat & Adolescents Med, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Holm, Mette
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Paediat & Adolescent Med, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Olesen, Charlotte
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Res Clin, Hammel Neurorehabil Ctr, Hammel, Denmark
Univ Res Clin, Hammel, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Hasle, Henrik
论文数: 0 引用数: 0
h-index: 0
机构:
AUH, Pediat & Adolescent Hlth, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark

Rubak, Sune
论文数: 0 引用数: 0
h-index: 0
机构:
AUH, Danish Ctr Pediat Pulmonol & Allergol, Dept Pediat & Adolescents Med, Aarhus, Denmark
Aarhus Univ, Dept Clin Med, Aarhus, Denmark Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark
机构:
[1] Aarhus Univ Hosp AUH, Dept Clin Immunol, Aarhus, Denmark
[2] AUH, Dept Mol Med, Aarhus, Denmark
[3] Dept Paediat & Adolescent Med, Aarhus, Denmark
[4] AUH, Danish Ctr Pediat Pulmonol & Allergol, Dept Pediat & Adolescents Med, Aarhus, Denmark
[5] Univ Res Clin, Hammel Neurorehabil Ctr, Hammel, Denmark
[6] Univ Res Clin, Hammel, Denmark
[7] AUH, Pediat & Adolescent Hlth, Aarhus, Denmark
[8] Aarhus Univ, Dept Clin Med, Aarhus, Denmark
关键词:
GUIDELINES;
D O I:
10.1002/ppul.27437
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
引用
收藏
页数:3
相关论文
共 5 条
- [1] HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis[J]. PEDIATRIC BLOOD & CANCER, 2007, 48 (02) : 124 - 131Henter, Jan-Inge论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenHorne, AnnaCarin论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenArico, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenEgeler, R. Maarten论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenFilipovich, Alexandra H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenImashuku, Shinsaku论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenLadisch, Stephan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenMcClain, Ken论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenWebb, David论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenWiniarski, Jacek论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, SwedenJanka, Gritta论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden
- [2] Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome[J]. NATURE GENETICS, 2000, 25 (02) : 173 - 176Ménasché, G论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FrancePastural, E论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceFeldmann, J论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceCertain, S论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceErsoy, F论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceDupuis, S论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceWulffraat, N论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceBianchi, D论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceFischer, A论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, FranceLe Deist, F论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, Francede Saint Basile, G论文数: 0 引用数: 0 h-index: 0机构: INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, France INSERM, U429, Unite Rech Dev Normal & Pathol Syst Immunitaire, Paris, France
- [3] Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure[J]. PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2021, 38 (06) : 593 - 601Messinger, Yoav H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USAPozos, Tamara C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Minnesota, Dept Immunol, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USAGriffiths, Anne G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Minnesota, Childrens Resp & Crit Care, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USAMize, William A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Minnesota, Dept Radiol, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USAOlson, Damon R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Minnesota, Pathol & Lab Med, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USASmith, Angela R.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Pediat Blood & Marrow Transplantat Cellular Thera, Minneapolis, MN USA Childrens Minnesota, Pediat Hematol Oncol Canc & Blood Disorders, Minneapolis, MN USA
- [4] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424Richards, Sue论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAAziz, Nazneen论文数: 0 引用数: 0 h-index: 0机构: Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USABick, David论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USADas, Soma论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAGastier-Foster, Julie论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAGrody, Wayne W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAHegde, Madhuri论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAVoelkerding, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
- [5] Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis:: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A[J]. HUMAN MUTATION, 2006, 27 (01) : 62 - 68Stadt, UZ论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanyBeutel, K论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanyKolberg, S论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanySchneppenheim, R论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanyKabisch, H论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanyJanka, G论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, GermanyHennies, HC论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Dept Pediat Hematol & Oncol, Med Ctr Hamburg Eppendorf, D-20246 Hamburg, Germany