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Human homozygous type I plasminogen deficiency and ligneous conjunctivitis.
- Published in:
- APMIS, 1999, v. 107, n. 1-6, p. 62, doi. 10.1111/j.1699-0463.1999.tb01527.x
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- Publication type:
- Article
EU HTA Regulation and Joint Clinical Assessment—Threat or Opportunity?
- Published in:
- Journal of Market Access & Health Policy, 2024, v. 12, n. 2, p. 100, doi. 10.3390/jmahp12020008
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- Publication type:
- Article
Altered functional activity patterns of fibroblasts related to periodontitis by systemic plasminogen deficiency (ligneous periodontitis)
- Published in:
- 2011
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- Publication type:
- Journal Article
Altered functional activity patterns of fibroblasts related to periodontitis by systemic plasminogen deficiency (ligneous periodontitis).
- Published in:
- Quintessence International, 2011, v. 42, n. 7, p. 601
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- Publication type:
- Article
Risk Factors for Complicated Lymphadenitis Caused by Nontuberculous Mycobacteria in Children.
- Published in:
- 2020
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- Publication type:
- journal article
Multilokuläre osteo-artikuläre Schmerzen und pustulöse Hautveränderungen bei einem Jugendlichen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2008, v. 6, n. 8, p. 682, doi. 10.1111/j.1610-0387.2008.06505.x
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- Publication type:
- Article
Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency.
- Published in:
- Pediatric Pulmonology, 2001, v. 32, n. 2, p. 179, doi. 10.1002/ppul.1105
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- Publication type:
- Article
An Unusual Case of Refractory Campylobacter jejuni Infection in a Patient with X-Linked Agammaglobulinemia: Successful Combined Therapy with Maternal Plasma and Ciproftoxacin.
- Published in:
- Clinical Infectious Diseases, 1996, v. 23, n. 3, p. 526
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- Publication type:
- Article
Congenital varicella syndrome: studies of the virus-specific humoral and cell-mediated immune responses.
- Published in:
- 1994
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- Publication type:
- journal article
Nucleic acid hybridization for detection of herpes viruses in clinical specimens.
- Published in:
- Journal of Medical Virology, 1986, v. 19, n. 3, p. 277, doi. 10.1002/jmv.1890190310
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- Publication type:
- Article
Addison's Disease and Severe Encephalopathy in an Infant with HIV Infection.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 3, p. 297, doi. 10.1515/JPEM.2010.23.3.297
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- Publication type:
- Article
Antinuclear Antibody-Positive Juvenile Idiopathic Arthritis Despite IRAK-4 Deficiency.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 684, doi. 10.1007/s10875-016-0317-y
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- Publication type:
- Article
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01037-7
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- Publication type:
- Article
Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.
- Published in:
- 1999
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- Publication type:
- journal article
Erythematous scaling lesions of the face, dorsal fingers, elbows, and knees together with symmetrical muscle weakness in a child.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 7, p. 1347, doi. 10.1002/ccr3.2219
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- Publication type:
- Article
Detection of Human Cytomegalovirus in Urine by DNA-DNA and RNA-DNA Hybridization.
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- Journal of Infectious Diseases, 1986, v. 154, n. 2, p. 309, doi. 10.1093/infdis/154.2.309
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- Publication type:
- Article
Treatment of plasminogen deficiency patients with fresh frozen plasma.
- Published in:
- 2018
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- Publication type:
- journal article
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 129, doi. 10.1038/2424
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- Publication type:
- Article
Identification of Two Novel Deletion Mutations within the G<sub>s</sub>α Gene (GNAS1) in Albright Hereditary Osteodystrophy.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3254, doi. 10.1210/jcem.84.9.5970
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- Publication type:
- Article
X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein.
- Published in:
- Immunological Reviews, 2000, v. 178, n. 1, p. 21, doi. 10.1034/j.1600-065x.2000.17819.x
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- Publication type:
- Article
Lasting immune memory against hepatitis B in children after primary immunization with 4 doses of DTPa-HBV-IPV/Hib in the first and 2nd year of life.
- Published in:
- BMC Infectious Diseases, 2010, v. 10, n. 1, p. 1, doi. 10.1186/1471-2334-10-9
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- Publication type:
- Article
S2k‐Leitlinie zur Therapie des Pemphigus vulgaris/foliaceus und des bullösen Pemphigoids: 2019 Update.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 5, p. 516, doi. 10.1111/ddg.14097_g
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- Publication type:
- Article
S2k guidelines for the treatment of pemphigus vulgaris/foliaceus and bullous pemphigoid: 2019 update.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 5, p. 516, doi. 10.1111/ddg.14097
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- Publication type:
- Article
S2k guidelines for the treatment of psoriasis in children and adolescents – Short version part 2.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 9, p. 959, doi. 10.1111/ddg.13936
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- Publication type:
- Article
S2k‐Leitlinie zur Therapie der Psoriasis bei Kindern und Jugendlichen – Kurzfassung Teil 2.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 9, p. 959, doi. 10.1111/ddg.13936_g
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- Publication type:
- Article
S2k‐Leitlinie zur Therapie der Psoriasis bei Kindern und Jugendlichen – Kurzfassung Teil 1.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 856, doi. 10.1111/ddg.13907_g
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- Publication type:
- Article
S2k guidelines for the treatment of psoriasis in children and adolescents – Short version part 1.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 856, doi. 10.1111/ddg.13907
- By:
- Publication type:
- Article
S2k guidelines for the treatment of pemphigus vulgaris/foliaceus and bullous pemphigoid.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2015, v. 13, n. 8, p. 833, doi. 10.1111/ddg.12606
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- Publication type:
- Article
S2k-Leitlinie zur Therapie des Pemphigus vulgaris/foliaceus und des bullösen Pemphigoid.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2015, v. 13, n. 8, p. 833, doi. 10.1111/ddg.140_12606
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- Publication type:
- Article
S2k guideline for the diagnosis of pemphigus vulgaris/foliaceus and bullous pemphigoid.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2015, v. 13, n. 7, p. 713, doi. 10.1111/ddg.12612
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- Publication type:
- Article
S2k-Leitlinie zur Diagnostik des Pemphigus vulgaris/foliaceus und des bullösen Pemphigoids.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2015, v. 13, n. 7, p. 713, doi. 10.1111/ddg.40_12612
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- Publication type:
- Article
Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease.
- Published in:
- 2007
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- Publication type:
- journal article
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.
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- 2005
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- Publication type:
- journal article
Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency.
- Published in:
- 2003
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- Publication type:
- journal article
Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 462
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- Publication type:
- Article
Invasive pneumococcal diseases in children and adolescents- a single centre experience.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-145
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- Publication type:
- Article
NAMPT serum levels are selectively elevated in acute infectious disease and in acute relapse of chronic inflammatory diseases in children.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183027
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- Publication type:
- Article
Hoffman syndrome: New patients, new insights.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 149, doi. 10.1002/ajmg.a.33678
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- Publication type:
- Article
A novel combined treatment for plasminogen deficiency with lung involvement.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 1, p. E1, doi. 10.1002/ppul.24563
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- Publication type:
- Article
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica<FN ID="fn1">Communicated by Michel Goossens</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #649 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/649.pdf</FN>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 337
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- Publication type:
- Article
Hypoplasminogenemia With Ligneous Periodontitis: A Failed Local Therapeutic Approach.
- Published in:
- Journal of Periodontology, 2007, v. 78, n. 6, p. 1164, doi. 10.1902/jop.2007.060422
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 4, p. 599
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- Publication type:
- Article
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 5, p. 686
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- Publication type:
- Article
Ligneous inflammation involving the female genital tract.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2007, v. 33, n. 4, p. 581, doi. 10.1111/j.1447-0756.2007.00579.x
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- Publication type:
- Article
Detection of a nuclear antigen 2 (EBNA2)-variant Epstein-Barr virus strain in two siblings with fatal lymphoproliferative disease.
- Published in:
- Journal of Medical Virology, 1996, v. 48, n. 1, p. 114, doi. 10.1002/(SICI)1096-9071(199601)48:1<114::AID-JMV18>3.0.CO;2-G
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- Publication type:
- Article
Gastritis and colitis can be associated with XLP-1 ( SAP deficiency)
- Published in:
- 2012
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- Publication type:
- Journal Article
Gastritis and colitis can be associated with XLP-1 ( SAP deficiency).
- Published in:
- Pediatrics International, 2012, v. 54, n. 6, p. 964, doi. 10.1111/ped.12000
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- Publication type:
- Article
A boy with coinciding neurofibromatosis and hypogammaglobulinemia.
- Published in:
- Pediatrics International, 2002, v. 44, n. 4, p. 465, doi. 10.1046/j.1442-200X.2002.01602.x
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- Publication type:
- Article
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2407, doi. 10.1093/hmg/8.13.2407
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- Publication type:
- Article