• 566 Citations
  • 14 h-Index
20012018
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Research Output 2001 2018

  • 566 Citations
  • 14 h-Index
  • 45 Article
  • 5 Chapter
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Article
2018
1 Citation (Scopus)

A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

Erdős, M., jún. 1 2018, In : Orvosi Hetilap. 159, 23, p. 948-956 9 p.

Research output: Article

Neonatal Screening
Severe Combined Immunodeficiency
Mycobacterium bovis
Hungary
Immune System Diseases
2015
3 Citations (Scopus)

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene

Tóth, B., Soltész, B., Gyimesi, E., Csorba, G., Veres, Lányi, A., Kovács, G., Máródi, L. & Erdős, M., 2015, In : Journal of Clinical Immunology. 35, 1, p. 26-31 6 p.

Research output: Article

Phenotype
Mutation
Complementary DNA
Mothers
Genes
7 Citations (Scopus)
Interleukin-17
Candidiasis
Interleukins
Immunity
Candida
2014
24 Citations (Scopus)
Autoimmune Polyendocrinopathies
Interleukin-17
Candidiasis
Autoantibodies
Chronic Mucocutaneous Candidiasis
2013
3 Citations (Scopus)
Cytokinesis
Multiplex Polymerase Chain Reaction
Exons
Mutation
DNA Mutational Analysis
2012
3 Citations (Scopus)
Chronic Granulomatous Disease
Liver Abscess
Sulfamethoxazole Drug Combination Trimethoprim
1 Citation (Scopus)

Idoskorban kezdett enzimszubsztitúciós terápia Gaucher-kórban

Juhász, P., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2012, In : Orvosi Hetilap. 153, 7, p. 264-270 7 p.

Research output: Article

Enzyme Replacement Therapy
Gaucher Disease
Glucosylceramidase
Bone and Bones
Spontaneous Fractures
2 Citations (Scopus)
CD40 Ligand
Twin Pregnancy
Molecular Pathology
Type 1 Hyper-IgM Immunodeficiency Syndrome
Fetus
2011
4 Citations (Scopus)
Nijmegen Breakage Syndrome
cutaneous Tuberculosis
Microcephaly
Chromosomal Instability
Mycobacterium
2010
10 Citations (Scopus)

A multi-centre study of efficacy and safety of Intratect®, a novel intravenous immunoglobulin preparation

Kreuz, W., Erdős, M., Rossi, P., Bernatowska, E., Espanol, T. & Máródi, L., szept. 2010, In : Clinical and Experimental Immunology. 161, 3, p. 512-517 6 p.

Research output: Article

Intravenous Immunoglobulins
Safety
Bacterial Infections
Hospitalization
Fever
9 Citations (Scopus)
Nerve Tissue Proteins
Chronic Mucocutaneous Candidiasis
Mycoses
Candida albicans
Cellular Immunity
3 Citations (Scopus)

Dyskeratosis congenita: Molekuláris diagnosztika és terápiás lehetoségek

Reiger, Z. D. R., Varga, G. D. R., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2010, In : Orvosi Hetilap. 151, 8, p. 285-292 8 p.

Research output: Article

Dyskeratosis Congenita
Premature Aging
Mutation
Molecular Pathology
Family Planning Services
2 Citations (Scopus)

Fabry-betegség: Diagnosztikai útmutató

Constantin, T., Rákóczi, É., Ponyi, A., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Csikós, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S., Nagy, V. & 8 others, Magyar, P., Mahdi, M., Németh, K., Bereczki, D., Garami, M., Erdős, M., Máródi, L. & Fekete, G., febr. 1 2010, In : Orvosi Hetilap. 151, 7, p. 243-249 7 p.

Research output: Article

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Delivery of Health Care
1 Citation (Scopus)

Fabry-betegség - Terápiás útmutató

Constantin, T., Székely, A., Ponyi, A., Gulácsy, V., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Medvecz, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S. & 10 others, Nagy, V., Magyar, P., Mahdi, M., Rákóczi, E., Németh, K., Bereczki, D., Garami, M., Erdős, M., Máródi, L. & Fekete, G., aug. 1 2010, In : Orvosi Hetilap. 151, 31, p. 1243-1251 9 p.

Research output: Article

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Patient Care
2 Citations (Scopus)

Nijmegen-Breakage-szindróma

Erdős, M., Tóth, B., Juhász, P., Mahdi, M. & Máródi, L., ápr. 1 2010, In : Orvosi Hetilap. 151, 16, p. 665-673 9 p.

Research output: Article

Nijmegen Breakage Syndrome
Severe Combined Immunodeficiency
Microcephaly
Chromosomal Instability
Molecular Pathology
27 Citations (Scopus)

Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy

Tóth, B., Wolff, A. S. B., Halász, Z., Tar, A., Szüts, P., Ilyés, I., Erdős, M., Szegedi, G., Husebye, E. S., Zeher, M. & Máródi, L., máj. 2010, In : Clinical Endocrinology. 72, 5, p. 641-647 7 p.

Research output: Article

Interferons
Antibodies
Autoimmune Diseases
Mutation
Chronic Mucocutaneous Candidiasis
26 Citations (Scopus)

Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome

Kriván, G., Erdős, M., Kállay, K., Benyó, G., Tóth, Á., Sinkó, J., Goda, V., Tóth, B. & Máródi, L., márc. 2010, In : European Journal of Haematology. 84, 3, p. 274-275 2 p.

Research output: Article

Cord Blood Stem Cell Transplantation
Immunologic Deficiency Syndromes
CXCR4 Receptors
Remission Induction
Dominant Genes
2009

Association of Renal Ectopia With Fabry's Disease in 3 Patients

Rákóczi, É., Tóth, B., Görögh, S., Erdős, M., Sümegi, J. & Máródi, L., ápr. 2009, In : Journal of Urology. 181, 4, p. 1949-1954 6 p.

Research output: Article

Fabry Disease
Galactosidases
Kidney
Genes
X-Linked Genes
37 Citations (Scopus)

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Tóth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, E., Kondratenko, I., Polyakov, A., Erdős, M., Pasic, S., Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., Stavrik, K., Avcin, T., Márton, G., Nagy, K., Dérfalvi, B., Szolnoky, M., Kalmár, Á. & 18 others, Belevtsev, M., Guseva, M., Rugina, A., Kriván, G., Timár, L., Nyul, Z., Mosdósi, B., Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. I. E., van Dongen, J., van der Burg, M. & Máródi, L., jún. 2009, In : Molecular Immunology. 46, 10, p. 2140-2146 7 p.

Research output: Article

Eastern Europe
Cohort Studies
Demography
Genes
Mutation
2008
4 Citations (Scopus)

Gaucher-kór: A korai diagnózis és terápia jelentosége

Simon, G., Erdős, M., Máródi, L. & Tóth, J., ápr. 20 2008, In : Orvosi Hetilap. 149, 16, p. 743-750 8 p.

Research output: Article

Gaucher Disease
Secondary Prevention
Early Diagnosis
Glucosylceramidase
Enzyme Therapy
9 Citations (Scopus)

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

Erdős, M., Lakos, G., Dérfalvi, B., Notarangelo, L. D., Durandy, A. & Máródi, L., jan. 2008, In : Molecular Immunology. 45, 1, p. 278-282 5 p.

Research output: Article

Immunoglobulin M
Molecular Biology
CD40 Ligand
Mutation
B-Lymphocytes
18 Citations (Scopus)
Neuroendocrine Carcinoma
Immunoglobulin M
CD40 Ligand
Pneumocystis carinii
Chromogranin A
54 Citations (Scopus)

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

Jiao, H., Tóth, B., Erdős, M., Fransson, I., Rákóczi, É., Balogh, I., Magyarics, Z., Dérfalvi, B., Csorba, G., Szaflarska, A., Megarbane, A., Akatcherian, C., Dbaibo, G., Rajnavolgyi, E., Hammarström, L., Kere, J., Lefranc, G. & Máródi, L., nov. 2008, In : Molecular Immunology. 46, 1, p. 202-206 5 p.

Research output: Article

Job Syndrome
STAT3 Transcription Factor
Ethnic Groups
Mutation
Genes
7 Citations (Scopus)

Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease

Erdős, M., Németh, K., Tóth, B., Constantin, T., Rákóczi, É., Ponyi, A., Dajnoki, A., Grubits, J., Pintér, I., Garzuly, F., Hahn, K., Bencsik, K., Vécsei, L., Fekete, G. & Máródi, L., dec. 2008, In : Molecular Genetics and Metabolism. 95, 4, p. 224-228 5 p.

Research output: Article

Galactosidases
Fabry Disease
Genes
Mutation
Consanguinity
2 Citations (Scopus)

Porc-haj hypoplasia

Erdős, M., Tóth, B., Almássy, Z., Tímár, L. & Máródi, L., febr. 3 2008, In : Orvosi Hetilap. 149, 5, p. 209-217 9 p.

Research output: Article

Enchondromatosis
Molecular Pathology
Molecular Biology
T-Lymphocytes
Therapeutics
2007
1 Citation (Scopus)

A Fabry-kór molekuláris patológiája és klinikai megjelenési formái

Rákóczi, É., Görögh, S., Grubits, J., Erdős, M., Garzuly, F., Hahn, K., Bencsik, K., Vécsei, L., Trinn, C., Kristóf, É., Mogyorósy, G., Tóth, B. & Máródi, L., jún. 10 2007, In : Orvosi Hetilap. 148, 23, p. 1087-1094 8 p.

Research output: Article

Fabry Disease
Molecular Pathology
Angiokeratoma
Enzyme Replacement Therapy
Mutation
13 Citations (Scopus)

Genetic and clinical features of patients with Gaucher disease in Hungary

Erdős, M., Hodanova, K., Taskó, S., Palicz, A., Stolnaja, L., Dvorakova, L., Hrebicek, M. & Máródi, L., júl. 2007, In : Blood Cells, Molecules, and Diseases. 39, 1, p. 119-123 5 p.

Research output: Article

Gaucher Disease
Hungary
Mutation
Genotype
Alleles
106 Citations (Scopus)

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

Ku, C. L., Picard, C., Erdős, M., Jeurissen, A., Bustamante, J., Puel, A., Von Bernuth, H., Filipe-Santos, O., Chang, H. H., Lawrence, T., Raes, M., Máródi, L., Bossuyt, X. & Casanova, J. L., jan. 2007, In : Journal of Medical Genetics. 44, 1, p. 16-23 8 p.

Research output: Article

Mutation
Toll-Like Receptors
Interleukin-1 Receptors
Germ-Line Mutation
Tumor Necrosis Factor Receptors
20 Citations (Scopus)

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome

Alapi, K., Erdős, M., Kovács, G. & Máródi, L., jan. 2007, In : European Journal of Haematology. 78, 1, p. 86-88 3 p.

Research output: Article

Chemokine Receptors
CXCR4 Receptors
Genes
Agammaglobulinemia
Mutation
17 Citations (Scopus)
Interleukin-1 Receptor-Associated Kinases
Streptococcus pneumoniae
Infection
Pneumococcal Infections
Genetic Linkage
8 Citations (Scopus)
Type 1 Hyper-IgM Immunodeficiency Syndrome
CD40 Ligand
X-Linked Combined Immunodeficiency Diseases
Interstitial Lung Diseases
Genetic Counseling
1 Citation (Scopus)
Molecular Biology
Mutation
Mothers
Dysostoses
Exocrine Pancreatic Insufficiency
1 Citation (Scopus)

WHIM-szindróma

Erdős, M. & Máródi, L., jún. 24 2007, In : Orvosi Hetilap. 148, 25, p. 1173-1179 7 p.

Research output: Article

Molecular Pathology
Delayed Diagnosis
Therapeutics
WHIM syndrome
2006

Invazív Pneumococcus-fertozések primer immundefektusokban

Erdős, M. & Máródi, L., ápr. 30 2006, In : Orvosi Hetilap. 147, 17, p. 799-804 6 p.

Research output: Article

Pneumococcal Infections
Polysaccharides
Anti-Idiotypic Antibodies
Pneumonia
6 Citations (Scopus)

Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins [8]

Alapi, K., Erdős, M., Török, O. & Máródi, L., máj. 2006, In : Clinical Chemistry. 52, 5, p. 901-903 3 p.

Research output: Article

Wiskott-Aldrich Syndrome Protein
Wiskott-Aldrich Syndrome
Preschool Children
Heterozygote
Prenatal Diagnosis
17 Citations (Scopus)

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

Erdős, M., Alapi, K., Balogh, I., Oroszlán, G., Rákóczi, É., Sümegi, J. & Máródi, L., nov. 2006, In : Experimental Hematology. 34, 11, p. 1517-1521 5 p.

Research output: Article

Protein Stability
Missense Mutation
Exons
Phenotype
Complementary DNA
2005
16 Citations (Scopus)

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

Erdős, M., Uzvölgyi, E., Nemes, Z., Török, O., Rákóczi, E., Went-Sümegi, N., Sümegi, J. & Máródi, L., máj. 2005, In : Human Mutation. 25, 5, p. 506 1 p.

Research output: Article

Lymphoproliferative Disorders
Mutation
Proteins
Mothers
Lymphocytes
21 Citations (Scopus)
CD40 Antigens
Hyper-IgM Immunodeficiency Syndrome
Immunoglobulin Class Switching
CD40 Ligand
Genetic Recombination
44 Citations (Scopus)

Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the α-galactosidase A gene

Garzuly, F., Máródi, L., Erdős, M., Grubits, J., Varga, Z., Gelpi, E., Rohonyi, B., Mázló, M., Molnár, A. & Budka, H., szept. 2005, In : Brain. 128, 9, p. 2078-2083 6 p.

Research output: Article

Galactosidases
Fabry Disease
Thrombosis
Mutation
Basilar Artery
2004
2 Citations (Scopus)

Fasciitis necrotisans hyper-IgE-szindrómában.

Erdős, M., Nagy, L., Szentkereszty, Z., Sáfrány, G. & Máródi, L., jún. 27 2004, In : Orvosi Hetilap. 145, 26, p. 1367-1372 6 p.

Research output: Article

Job Syndrome
Necrotizing Fasciitis
Skin
Methicillin Resistance
Dentition
10 Citations (Scopus)

Glucocerebroside inhibits NADPH oxidase activation in cell-free system

Moskwa, P., Palicz, A., Paclet, M. H., Dagher, M. C., Erdős, M., Máródi, L. & Ligeti, E., ápr. 5 2004, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1688, 3, p. 197-203 7 p.

Research output: Article

Glucosylceramides
Cell-Free System
NADPH Oxidase
Xanthine
Xanthine Oxidase
2003
17 Citations (Scopus)

Rebound hepatosplenomegaly in type 1 Gaucher disease

Tóth, J., Erdős, M. & Máródi, L., febr. 1 2003, In : European Journal of Haematology. 70, 2, p. 125-128 4 p.

Research output: Article

Gaucher Disease
Enzyme Replacement Therapy
Muscle Rigidity
Liver
Splenomegaly
1 Citation (Scopus)

Több csont destruktív elváltozása 1. típusú Gaucher-kórban.

Boda, A., Erdős, M., Tóth, J., Nagy, J. & Máródi, L., márc. 30 2003, In : Orvosi Hetilap. 144, 13, p. 625-627 3 p.

Research output: Article

Gaucher Disease
Bone and Bones
Osteonecrosis
Tibia
Infarction
2002
1 Citation (Scopus)

Prezentációs jelek és tünetek Gaucher-kórban.

Erdős, M., Tóth, J. & Máródi, L., okt. 13 2002, In : Orvosi Hetilap. 143, 41, p. 2327-2335 9 p.

Research output: Article

Glucosylceramidase
Gaucher Disease
Signs and Symptoms
Hypersplenism
Hepatomegaly
2001
Interferon-gamma
Mycobacterium
Cytokines
Cellular Immunity
Salmonella