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Wyszukujesz frazę ""van Montfrans, JM"" wg kryterium: Wszystkie pola

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Wyświetlanie 1-20 z 587
Tytuł:
Development of a primary care screening algorithm for the early detection of patients at risk of primary antibody deficiency.
Autorzy:
Messelink MA; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands. .
Berbers RM; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
van Montfrans JM; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
Ellerbroek PM; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
Gladiator A; Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152, Glattpark-Opfikon, Zurich, Switzerland.
Welsing PMJ; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
Leavis H; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
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Źródło:
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology [Allergy Asthma Clin Immunol] 2023 May 27; Vol. 19 (1), pp. 44. Date of Electronic Publication: 2023 May 27.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Retropharyngeal abscess-like as an atypical presentation of Kawasaki disease: a case report and literature review.
Autorzy:
Kasem Ali Sliman R; Pediatric Department, Carmel Medical Center, Michal 7 St., 3436212, Haifa, Israel. .; Technion Faculty of Medicine, Haifa, Israel. .
van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital/University Medical Center, Utrecht, The Netherlands.
Nassrallah N; Technion Faculty of Medicine, Haifa, Israel.; Department of Radiology, Carmel Medical Center, Michal 7 St., 3436212, Haifa, Israel.
Hamad Saied M; Pediatric Department, Carmel Medical Center, Michal 7 St., 3436212, Haifa, Israel.; Technion Faculty of Medicine, Haifa, Israel.; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital/University Medical Center, Utrecht, The Netherlands.
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Źródło:
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Apr 13; Vol. 21 (1), pp. 34. Date of Electronic Publication: 2023 Apr 13.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Mucocutaneous Lymph Node Syndrome*/complications
Mucocutaneous Lymph Node Syndrome*/diagnosis
Mucocutaneous Lymph Node Syndrome*/drug therapy
Retropharyngeal Abscess*/diagnosis
Retropharyngeal Abscess*/etiology
Retropharyngeal Abscess*/therapy
Child ; Female ; Humans ; Child, Preschool ; Fever/complications ; Inflammation ; Neck ; Anti-Bacterial Agents/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel method to standardise serum IgA measurements shows an increased prevalence of IgA deficiency in young children with recurrent respiratory tract infections.
Autorzy:
Koenen MH; Center of Translational Immunology University Medical Center Utrecht Utrecht The Netherlands.
Bosma M; Department of Clinical Chemistry St Antonius Hospital Nieuwegein The Netherlands.
Roorda UA; Department of Research Data Management Pediatrics, Woman & Baby UMC Utrecht Utrecht The Netherlands.
Wopereis FM; Department of General Practice University Medical Center Utrecht Utrecht The Netherlands.
Roos A; Department of Medical Microbiology and Immunology St Antonius Hospital Nieuwegein The Netherlands.
van der Vries E; Department of Research & Development GD Animal Health Deventer The Netherlands.; Department of Clinical Chemistry and Hematology University Medical Center Utrecht Utrecht The Netherlands.
Bogaert D; Department of Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands.; Center for Inflammation Research Queen's Medical Research Institute University of Edinburgh Edinburgh UK.
Sanders EA; Department of Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands.; Centre for Infectious Disease Control National Institute of Public Health and the Environment Bilthoven The Netherlands.
Boes M; Center of Translational Immunology University Medical Center Utrecht Utrecht The Netherlands.; Department of Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands.
Heidema J; Department of Pediatrics St Antonius Hospital Nieuwegein The Netherlands.
van Montfrans JM; Department of Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands.
Balemans WA; Department of Pediatrics St Antonius Hospital Nieuwegein The Netherlands.
van Holten TC; Department of Clinical Chemistry St Antonius Hospital Nieuwegein The Netherlands.
Verhagen LM; Department of Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands.; Section of Pediatric Infectious Diseases Laboratory of Medical Immunology Radboud University Medical Center Radboud Center for Infectious Diseases Nijmegen The Netherlands.; Department of Paediatric Infectious Diseases and Immunology Radboud University Medical Center Amalia Children's Hospital Nijmegen The Netherlands.
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Źródło:
Clinical & translational immunology [Clin Transl Immunology] 2021 Oct 29; Vol. 10 (11), pp. e1344. Date of Electronic Publication: 2021 Oct 29 (Print Publication: 2021).
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).
Autorzy:
Willemse BWM; Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands. .
van der Crabben SN; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Timens W; Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Montfrans JM; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Lindemans CA; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatric Blood and Bone Marrow Transplantation, Princess Maxima Center and UMC Utrecht, Utrecht, The Netherlands.
Boelens JJ; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Stem Cell Transplantation and Cellular Therapies Program, Department Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hennus MP; Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
van Haaften G; Department of Genetics (Center for Molecular Medicine, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 19; Vol. 16 (1), pp. 137. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji:
Letter
MeSH Terms:
Hematopoietic Stem Cell Transplantation*
Lung Diseases*
Respiratory Distress Syndrome*
Chromosome Breakage ; Humans ; Phenotype ; Retrospective Studies
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Proposta di un algoritmo diagnostico per il deficit di Adenosina Deaminasi-2 (DADA2).
Autorzy:
Cafaro, Alessia
Grossi, Alice
Barco, Sebastiano
Pigliasco, Federica
Biondi, Margherita
Schena, Francesca
Penco, Federica
Signa, Sara
Drago, Enrico
Matucci-Cerinic, Caterina
Volpi, Stefano
Caorsi, Roberta
Bandettini, Roberto
Ceccherini, Isabella
Gattorno, Marco
Cangemi, Giuliana
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Alternatywny tytuł:
Diagnostic workflow for Adenosine Deaminase-2 Deficiency (DADA2): a proposal.
Źródło:
Biochimica Clinica. mar2024, Vol. 48 Issue 1, p62-66. 5p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Autorzy:
Alizadeh, Zahra
Badalzadeh, Mohsen
Heydarlou, Hanieh
Shakerian, Leila
Rad, Maryam Mahlooji
Zandieh, Fariborz
Fazlollahi, Mohammad Reza
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Źródło:
Archives of Iranian Medicine (AIM). Dec2023, Vol. 26 Issue 12, p712-716. 5p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report.
Autorzy:
Liquidano-Perez, Eduardo
Carmona Berrón, Mariana
Carrillo Nieto, Rosa Itzel
Corcuera Delgado, Celso Tomás
Blancas Galicia, Lizbeth
Scheffler Mendoza, Selma Cecilia
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Źródło:
Iranian Journal of Allergy, Asthma & Immunology. Dec2023, Vol. 22 Issue 6, p600-603. 4p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical manifestation for immunoglobulin A deficiency: a systematic review and meta-analysis.
Autorzy:
Vosughimotlagh, Ahmad (AUTHOR)
Rasouli, Seyed Erfan (AUTHOR)
Rafiemanesh, Hosein (AUTHOR)
Safarirad, Molood (AUTHOR)
Sharifinejad, Niusha (AUTHOR)
Madanipour, Atossa (AUTHOR)
Dos Santos Vilela, Maria Marluce (AUTHOR)
Heropolitańska-Pliszka, Edyta (AUTHOR)
Azizi, Gholamreza (AUTHOR)
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Źródło:
Allergy, Asthma & Clinical Immunology. 8/28/2023, Vol. 19 Issue 1, p1-11. 11p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Autorzy:
Ferreira, Cristina Santos (AUTHOR)
Francisco Junior, Ronaldo da Silva (AUTHOR)
Gerber, Alexandra Lehmkuhl (AUTHOR)
Guimarães, Ana Paula de Campos (AUTHOR)
de Carvalho, Flavia Amendola Anisio (AUTHOR)
dos Reis, Bárbara Carvalho Santos (AUTHOR)
Pinto-Mariz, Fernanda (AUTHOR)
de Souza, Monica Soares (AUTHOR)
de Vasconcelos, Zilton Farias Meira (AUTHOR)
Goudouris, Ekaterini Simões (AUTHOR)
Vasconcelos, Ana Tereza Ribeiro (AUTHOR)
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Źródło:
BMC Genomic Data. 8/17/2023, Vol. 24 Issue 1, p1-14. 14p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.
Autorzy:
Asna Ashari, Kosar (AUTHOR)
Aslani, Nahid (AUTHOR)
Parvaneh, Nima (AUTHOR)
Assari, Raheleh (AUTHOR)
Heidari, Morteza (AUTHOR)
Fathi, Mohammadreza (AUTHOR)
Tahghighi Sharabian, Fatemeh (AUTHOR)
Ronagh, Alireza (AUTHOR)
Shahrooei, Mohammad (AUTHOR)
Moafi, Alireza (AUTHOR)
Rezaei, Nima (AUTHOR)
Ziaee, Vahid (AUTHOR)
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Źródło:
Pediatric Rheumatology. 6/13/2023, Vol. 21 Issue 1, p1-8. 8p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.
Autorzy:
Maccora, Ilaria (AUTHOR)
Maniscalco, Valerio (AUTHOR)
Campani, Silvia (AUTHOR)
Carrera, Simona (AUTHOR)
Abbati, Giulia (AUTHOR)
Marrani, Edoardo (AUTHOR)
Mastrolia, Maria Vincenza (AUTHOR)
Simonini, Gabriele (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 5/13/2023, Vol. 18 Issue 1, p1-14. 14p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
عفونتهای شایع تنفسی در کودکان مراجعهکننده به بیمارستان اطفال ابوذر در اهواز طی نیمسال اول 2021؛ فراوانی، عوامل خطر و زیرگروههای بالینی.
Autorzy:
ماندانا پوالدزا&
مفید حسین زاده
زهرا کرامت
مریم حیدر آزاده
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Alternatywny tytuł:
Common Respiratory Infections in Children Admitted to Aboozar Children's Hospital in Ahvaz City in the First Semester 2021: Frequency, Risk Factors and Clinical Subgroups.
Źródło:
Jundishapur Scientific Medical Journal. May/Jun2023, Vol. 22 Issue 2, p171-182. 12p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Autorzy:
Stasia MJ; 1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.
Mollin M
Martel C
Satre V
Coutton C
Amblard F
Vieville G
van Montfrans JM
Boelens JJ
Veenstra-Knol HE
van Leeuwen K
de Boer M
Brion JP
Roos D
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10), pp. 1079-84. Date of Electronic Publication: 2013 Jan 23.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Granulomatous Disease, Chronic/*genetics
NADPH Oxidases/*deficiency
Williams Syndrome/*genetics
Adolescent ; Alleles ; Child, Preschool ; Gene Deletion ; Granulomatous Disease, Chronic/complications ; Granulomatous Disease, Chronic/diagnosis ; Granulomatous Disease, Chronic/metabolism ; Humans ; Male ; NADPH Oxidases/genetics ; NADPH Oxidases/metabolism ; Neutrophils/metabolism ; Williams Syndrome/complications ; Williams Syndrome/diagnosis ; Williams Syndrome/metabolism
SCR Disease Name:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 587

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