14169
2011
eng
e23955
9
6
article
1
2016-12-13
--
--
Post-Pandemic Seroprevalence of Pandemic Influenza A (H1N1) 2009 Infection (Swine Flu) among Children < 18 Years in Germany
Background:
We determined antibodies to the pandemic influenza A (H1N1) 2009 virus in children to assess: the incidence of (H1N1) 2009 infections in the 2009/2010 season in Germany, the proportion of subclinical infections and to compare titers in vaccinated and infected children.
Methodology/Principal Findings:
Eight pediatric hospitals distributed over Germany prospectively provided sera from in-or outpatients aged 1 to 17 years from April 1(st) to July 31(st) 2010. Vaccination history, recall of infections and sociodemographic factors were ascertained. Antibody titers were measured with a sensitive and specific in-house hemagglutination inhibition test (HIT) and compared to age-matched sera collected during 6 months before the onset of the pandemic in Germany. We analyzed 1420 post-pandemic and 300 pre-pandemic sera. Among unvaccinated children aged 1-4 and 5-17 years the prevalence of HI titers (>= 1:10) was 27.1% (95% CI: 23.5-31.3) and 53.5% (95% CI: 50.9-56.2) compared to 1.7% and 5.5%, respectively, for pre-pandemic sera, accounting for a serologically determined incidence of influenza A (H1N1) 2009 during the season 2009/2010 of 25,4% (95% CI : 19.3-30.5) in children aged 1-4 years and 48.0% (95% CI: 42.6-52.0) in 5-17 year old children. Of children with HI titers >= 1: 10, 25.5% (95% CI: 22.5-28.8) reported no history of any infectious disease since June 2009. Among vaccinated children, 92% (95%-CI: 87.0-96.6) of the 5-17 year old but only 47.8% (95%-CI: 33.5-66.5) of the 1-4 year old children exhibited HI titers against influenza A virus (H1N1) 2009.
Conclusion:
Serologically determined incidence of influenza A (H1N1) 2009 infections in children indicates high infection rates with older children (5-17 years) infected twice as often as younger children. In about a quarter of the children with HI titers after the season 2009/2010 subclinical infections must be assumed. Low HI titers in young children after vaccination with the AS03(B)-adjuvanted split virion vaccine need further scrutiny.
PLoS ONE
10.1371/journal.pone.0023955
urn:nbn:de:bvb:20-opus-141698
PLoS ONE 6(9): e23955. doi:10.1371/journal.pone.0023955
Rüdiger von Kries
Susanne Weiss
Gerhard Falkenhorst
Stephan Wirth
Petra Kaiser
Hans-Iko Huppertz
Tobias Tenenbaum
Horst Schroten
Andrea Streng
Johannes Liese
Sonu Shai
Tim Niehues
Hermann Girschick
Ellen Kuscher
Axel Sauerbrey
Jochen Peters
Carl Heinz Wirsing von Koenig
Simon Rückinger
Walter Hampl
Detlef Michel
Thomas Mertens
eng
uncontrolled
Hemagglutination inhibition
eng
uncontrolled
Vaccine
eng
uncontrolled
Age
eng
uncontrolled
Immunogenicity
eng
uncontrolled
Prevalence
eng
uncontrolled
Antibody
eng
uncontrolled
Viruses
eng
uncontrolled
England
deu
uncontrolled
Safety
deu
uncontrolled
Risk
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/14169/112_von-Kries_PLOS-ONE.PDF
17274
2017
eng
5
article
1
2018-11-23
--
--
Serum interleukin-6 and CCL11/eotaxin may be suitable biomarkers for the diagnosis of chronic nonbacterial osteomyelitis
Objectives: Chronic recurrent multifocal osteomyelitis (CRMO), the most severe form of chronic nonbacterial osteomyelitis (CNO), is an autoinflammatory bone disorder. In the absence of diagnostic criteria or biomarkers, CNO/CRMO remains a diagnosis of exclusion. The aim of this study was to identify biomarkers for diagnosing multifocal disease (CRMO).
Study design: Sera from 71 pediatric CRMO patients, 11 patients with osteoarticular infections, 62 patients with juvenile idiopathic arthritis (JIA), 7 patients with para-infectious or reactive arthritis, and 43 patients with acute leukemia or lymphoma, as well as 59 healthy individuals were collected. Multiplex analysis of 18 inflammation- and/or bone remodeling-associated serum proteins was performed. Statistical analysis included univariate ANOVA, discriminant analysis, univariate receiver operating characteristic (ROC) analysis, and logistic regression analyses.
Results: For 14 of 18 blood serum proteins, significant differences were determined between CRMO patients, at least one alternative diagnosis, or healthy controls. Multi-component discriminant analysis delivered five biomarkers (IL-6, CCL11/eotaxin, CCL5/RANTES, collagen Iα, sIL-2R) for the diagnosis of CRMO. ROC analysis allowed further reduction to a core set of 2 biomarkers (CCL11/eotaxin, IL-6) that are sufficient to discern between CRMO, healthy controls, and alternative diagnoses.
Conclusion: Serum biomarkers CCL11/eotaxin and IL-6 differentiate between patients with CRMO, healthy controls, and alternative diagnoses (leukemia and lymphoma, osteoarticular infections, para-infectious arthritis, and JIA). Easily accessible biomarkers may aid in diagnosing CRMO. Further studies testing biomarkers in larger unrelated cohorts are warranted.
Frontiers in Pediatrics
10.3389/fped.2017.00256
29250517
urn:nbn:de:bvb:20-opus-172744
Frontiers in Pediatrics (2017) 5:256. https://doi.org/10.3389/fped.2017.00256
true
true
CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International
Sigrun Ruth Hofmann
Fanny Böttger
Ursula Range
Christian Lück
Henner Morbach
Hermann Joseph Girschick
Meinolf Suttorp
Christian Michael Hedrich
eng
uncontrolled
medicine
eng
uncontrolled
chronic nonbacterial osteomyelitis
eng
uncontrolled
chronic recurrent multifocal osteomyelitis
eng
uncontrolled
inflammation
eng
uncontrolled
biomarker
eng
uncontrolled
autoinflammation
eng
uncontrolled
diagnosis
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/17274/Hofmann_fped-05-00256.pdf
6255
2011
eng
article
1
2012-11-13
--
--
Popliteal Cysts in Paediatric Patients: Clinical Characteristics and Imaging Features on Ultrasound and MRI
Popliteal cysts, or Baker cysts, are considered rare in children and may exhibit particular features, as compared with adults. We studied data from80 paediatric patients with 55 Baker cysts, examined over a period of 7 years, and correlated clinical presentation with findings on ultrasonography and MRI. Prevalence of popliteal cysts was 57% in arthritic knees, 58% with hypermobility syndrome, and 28% without risk factors. Only one patient had a trauma history and showed an ipsilateral cyst. Mean cyst volume was 3.4 mL; cysts were larger in boys. Patients with arthritis had echogenic cysts in 53%. Cyst communication with the joint space was seen in 64% on ultrasonography and 86% on MRI. In conclusion, Baker cysts are a common finding in a clinically preselected paediatric population. Children with Baker cysts should be assessed for underlying arthritis and inherited joint hypermobility, while sporadic Baker cysts appear to be common, as well.
urn:nbn:de:bvb:20-opus-68662
6866
In: Arthritis (2011), Article ID 751593, 7 p.; DOI:10.1155/2011/751593
Henning Neubauer
Henner Morbach
Tobias Schwarz
Clemens Wirth
Hermann Girschick
Meinrad Beer
deu
swd
Medizin
Medizin und Gesundheit
open_access
Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Förderzeitraum 2011
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/6255/Neubauer091_751593.pdf
5765
2011
eng
article
1
2012-04-13
--
--
Varicella-zoster virus infections in immunocompromised patients - a single centre 6-years analysis
Background: Infection with varicella-zoster virus (VZV) contemporaneously with malignant disease or immunosuppression represents a particular challenge and requires individualized decisions and treatment. Although the increasing use of varicella-vaccines in the general population and rapid initiation of VZVimmunoglobulins and acyclovir in case of exposure has been beneficial for some patients, immunocompromised individuals are still at risk for unfavourable courses. Methods: In this single center, 6-year analysis we review incidence, hospitalization and complication rates of VZVinfections in our center and compare them to published data. Furthermore, we report three instructive cases. Results: Hospitalization rate of referred children with VZV-infections was 45%, among these 17% with malignancies and 9% under immunosuppressive therapy. Rate of complications was not elevated in these two high-risk cohorts, but one ALL-patient died due to VZV-related complications. We report one 4-year old boy with initial diagnosis of acute lymphoblastic leukemia who showed a rapidly fatal outcome of his simultaneous varicella-infection, one 1.8-year old boy with an identical situation but a mild course of his disease, and an 8.5-year old boy with a steroiddependent nephrotic syndrome. This boy developed severe hepatic involvement during his varicella-infection but responded to immediate withdrawl of steroids and administration of acyclovir plus single-dose cidofovir after nonresponse to acyclovir after 48 h. Conclusion: Our data show that patients with malignant diseases or immunosuppressive therapy should be hospitalized and treated immediately with antiviral agents. Despite these measures the course of VZV-infections can be highly variable in these patients. We discuss aids to individual decision-making for these difficult situations.
urn:nbn:de:bvb:20-opus-68723
6872
BMC Pediatrics (2011) 11:31, doi:10.1186/1471-2431-11-31
Verena Wiegering
Judith Schick
Meinrad Beer
Stefan Gattenlöhner
Hermann Girschick
Johannes Liese
Paul Schlegel
Matthias Eyrich
deu
swd
Varizellen-Virus
eng
uncontrolled
varicella-zoster virus immunosuppression
eng
uncontrolled
pediatrics
eng
uncontrolled
cidofovir
Medizin und Gesundheit
open_access
Kinderklinik und Poliklinik
Förderzeitraum 2011
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/5765/Eyrich_1471_2431_11_31.pdf
5983
2010
eng
article
1
2012-07-04
--
--
Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment
Introduction: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory disorder of unknown etiology. In children and adolescents CNO predominantly affects the metaphyses of the long bones, but lesions can occur at any site of the skeleton. Prospectively followed cohorts using a standardized protocol in diagnosis and treatment have rarely been reported. Methods: Thirty-seven children diagnosed with CNO were treated with naproxen continuously for the first 6 months. If assessment at that time revealed progressive disease or no further improvement, sulfasalazine and short-term corticosteroids were added. The aims of our short-term follow-up study were to describe treatment response in detail and to identify potential risk factors for an unfavorable outcome. Results: Naproxen treatment was highly effective in general, inducing a symptom-free status in 43% of our patients after 6 months. However, four nonsteroidal anti-inflammatory drug (NSAID) partial-responders were additionally treated with sulfasalazine and short-term corticosteroids. The total number of clinical detectable lesions was significantly reduced. Mean disease activity estimated by the patient/physician and the physical aspect of health-related quality of life including functional ability (global assessment/childhood health assessment questionnaire and childhood health assessment questionnaire) and pain improved significantly. Forty-one percent of our patients showed radiological relapses, but 67% of them were clinically silent. Conclusions: Most children show a favorable clinical course in the first year of anti-inflammatory treatment with NSAIDs. Relapses and new radiological lesions can occur at any time and at any site in the skeleton but may not be clinically symptomatic. Whole-body magnetic resonance imaging proved to be very sensitive for initial and follow-up diagnostics.
urn:nbn:de:bvb:20-opus-67792
6779
ARTHRITIS RESEARCH & THERAPY (2010) 12, R74, DOI: 10.1186/ar2992
Christine Beck
Henner Morbach
Meinrad Beer
Martin Stenzel
Dennis Tappe
Stefan Gattenlöhner
Ulrich Hofmann
Peter Raab
Hermann J. Girschick
deu
swd
Mikrobiologie
Medizin und Gesundheit
open_access
Institut für Hygiene und Mikrobiologie
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/5983/girschick_ar2992.pdf
12569
2013
eng
47
11
article
1
2016-01-27
--
--
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear. Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated.
Pediatric Rheumatology
10.1186/1546-0096-11-47
1546-0096
urn:nbn:de:bvb:20-opus-125694
Pediatric Rheumatology 2013, 11:47. doi:10.1186/1546-0096-11-47
Christian M. Hedrich
Sigrun R. Hofmann
Jessica Pablik
Henner Morbach
Hermann J. Girschick
eng
uncontrolled
bisphosphonate treatment
eng
uncontrolled
IL-10 expression
eng
uncontrolled
TNF-α
eng
uncontrolled
IL-10
eng
uncontrolled
inflammation
eng
uncontrolled
bone
eng
uncontrolled
CRMO
eng
uncontrolled
CNO
eng
uncontrolled
DIRA
eng
uncontrolled
PAPA
eng
uncontrolled
Majeed-Syndrome
eng
uncontrolled
disease
eng
uncontrolled
deficiency
eng
uncontrolled
pediatric patients
eng
uncontrolled
treatment
eng
uncontrolled
TLR4
eng
uncontrolled
PAPA syndrome
eng
uncontrolled
hypertrophic osteodystrophy
eng
uncontrolled
chronic nonbacterial osteomyelitis
eng
uncontrolled
congenital dyserythropoietic anemia
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/12569/054_Hedrich_Pediatric_Rheumatology.pdf
13628
2015
eng
61
13
article
1
2016-07-19
--
--
No association of IL-12p40 pro1.1 polymorphism with juvenile idiopathic arthritis
Background: IL-12p40 plays an important role in the activation of the T-cell lines like Th17 and Th1-cells. Theses cells are crucial in the pathogenesis of juvenile idiopathic arthritis. A polymorphism in its promoter region and the genotype IL12p40 pro1.1 leads to a higher production of IL-12p40. We studied whether there is a difference in the distribution of the genotype in patients with JIA and the healthy population.
Methods: In 883 patients and 321 healthy controls the IL-12p40 promoter genotype was identified by ARMS-PCR.
Results: There is no association of IL-12p40 pro polymorphism neither in patients with JIA compared to controls nor in subtypes of JIA compared to oligoarthritis. We found a non-significant tendency of a higher prevalence of the genotype pro1.1 in systemic arthritis (32.4 %) and in rheumatoid factor negative polyarthritis (30.5 %) and a lower pro1.1 genotype in persistent oligoarthritis (20.7 %) and in enthesitis-related arthritis (17 %). Likelihood of the occurrence of genotype IL12-p40 pro1.1 in patients with systemic arthritis (OR 1.722, CI 95 % 1.344-2.615, p 0.0129) and RF-negative polyarthritis (OR 1.576, CI 95 % 1.046-2.376, p 0.0367) compared to persistent oligoarthritis was significantly higher. This was also true for comparison of their homozygous genotypes IL-12p40 pro 1.1 and 2.2 in systemic arthritis (OR 1.779, CI 95 % 1.045-3.029, p 0.0338). However, in Bonferroni correction for multiple hypothesis this was not significant.
Conclusion: A tendency of a higher prevalence of the genotype IL-12p40 pro1.1 in systemic arthritis and in rheumatoid factor negative polyarthritis was observed but not significant. Further investigations should be done to clarify the role IL-12p40 in the different subtypes of JIA.
Pediatric Rheumatology
10.1186/s12969-015-0059-z
urn:nbn:de:bvb:20-opus-136281
Pediatric Rheumatology (2015) 13:61. DOI 10.1186/s12969-015-0059-z
Christiane S. Eberhardt
Johannes-Peter Haas
Hermann Girschick
Tobias Schwarz
Henner Morbach
Angela Rösen-Wolff
Dirk Foell
Guenther Dannecker
Carsten Schepp
Gerd Ganser
Nora Honke
Thomas Eggermann
Jan Müller-Berghaus
Norbert Wagner
Kim Ohl
Klaus Tenbrock
eng
uncontrolled
polymorphism
eng
uncontrolled
cytokine
eng
uncontrolled
children
eng
uncontrolled
serum
eng
uncontrolled
IL12B
eng
uncontrolled
gene
eng
uncontrolled
cells
eng
uncontrolled
juvenile idiopathic arthritis
eng
uncontrolled
IL-12p40
eng
uncontrolled
IL-12B
eng
uncontrolled
promoter
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/13628/Eberhardt_2Fs12969-015-0059-z.pdf
13245
2013
eng
47
11
article
1
2016-04-19
--
--
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear.
Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated.
Pediatric Rheumatology
10.1186/1546-0096-11-47
urn:nbn:de:bvb:20-opus-132456
Pediatric Rheumatology 2013, 11:47. DOI:10.1186/1546-0096-11-47
Christian M. Hedrich
Sigrun R. Hofmann
Jessica Pablik
Henner Morbach
Hermann J. Girschick
eng
uncontrolled
TNF-α
eng
uncontrolled
PAPA
eng
uncontrolled
DIRA
eng
uncontrolled
Majeed
eng
uncontrolled
CNO
eng
uncontrolled
CRMO
eng
uncontrolled
bone
eng
uncontrolled
inflammation
eng
uncontrolled
IL-10
eng
uncontrolled
treatment
eng
uncontrolled
TLR4
Krankheiten
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/13245/138_Hedrich_Pedoatric_Rheumatology.pdf
6516
2012
eng
article
1
2013-03-28
--
--
Diffusion-weighted MRI of bone marrow oedema, soft tissue oedema and synovitis in paediatric patients: feasibility and initial experience
Background: MRI has become the mainstay of diagnostic imaging in paediatric rheumatology for lesion detection, differential diagnosis and therapy surveillance. MR imaging of synovitis, in particular, is indispensable for early diagnosis and follow-up in arthritis patients. We used diffusion-weighted MRI (DWI) as a new imaging modality in comparison to standard MRI sequences to study bone marrow oedema, soft-tissue oedema and synovitis in paediatric patients. Methods: A total of 52 patients (mean age 11 ± 5 years) with bone marrow oedema (n = 31), soft-tissue oedema (n = 20) and synovitis (n = 15) were examined with transversal diffusion-weighted single-shot echoplanar imaging in addition to standard MR sequences (T2W TIRM, T1W pre- and post-contrast). Diffusion-weighted images were used for lesion detection and apparent diffusion coefficient (ADC, unit × 10-3 mm2/s) values were measured with ROI technique on ADC maps. Results: In 50 of 52 patients, DWI delineated the lesion of interest corresponding to pathological signal increase on standard sequences. Mean ADC was 1.60 ± 0.14 (range 1.38 - 1.99) in osseous lesions, 1.72 ± 0.31 (range 1.43 - 2.56) in soft tissue oedema and 2.82 ± 0.24 (range 2.47 - 3.18) for joint effusion (ANOVA p<0.001). No significant difference in mean ADC was seen for inflammatory vs. non-inflammatory lesions. Relative signal intensity of oedema was similar for DWI and T2W TIRM. DWI visualised synovial restricted diffusion with a mean ADC of 2.12 ± 0.45 in 12 of 15 patients with synovitis. Conclusions: Diffusion-weighted MRI reliably visualises osseous and soft tissue oedema, as compared to standard sequences. DWI of synovitis is feasible in large joints and presents a novel approach to contrast-free imaging of synovitis. Whole-body DWI for chronic non-bacterial osteomyelitis should be evaluated in future studies.
urn:nbn:de:bvb:20-opus-75521
7552
In: Pediatric Rheumatology (2012) 10: 20, doi:10.1186/1546-0096-10-20
Henning Neubauer
Laura Evangelista
Henner Morbach
Hermann Girschick
Martina Prelog
Herbert Köstler
Dietbert Hahn
Meinrad Beer
deu
swd
Medizin
Medizin und Gesundheit
open_access
Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Förderzeitraum 2012
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/6516/037_1546_0096_10_20.pdf
23050
2020
eng
15
article
1
2021-03-11
--
--
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children
Background
Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. In children HPP-related musculoskeletal symptoms may mimic rheumatologic conditions and diagnosis is often difficult and delayed. To improve the understanding of HPP in children and in order to shorten the diagnostic time span in the future we studied the natural history of the disease in our large cohort of pediatric patients. This single centre retrospective chart review included longitudinal data from 50 patients with HPP diagnosed and followed at the University Children's Hospital Wuerzburg, Germany over the last 25 years.
Results
The cohort comprises 4 (8%) perinatal, 17 (34%) infantile and 29 (58%) childhood onset HPP patients. Two patients were deceased at the time of data collection. Diagnosis was based on available characteristic clinical symptoms (in 88%), low alkaline phosphatase (AP) activity (in 96%), accumulating substrates of AP (in 58%) and X-ray findings (in 48%). Genetic analysis was performed in 48 patients (31 compound heterozygous, 15 heterozygous, 2 homozygous mutations per patient), allowing investigations on genotype-phenotype correlations. Based on anamnestic data, median age at first clinical symptoms was 3.5 months (min. 0, max. 107), while median time to diagnosis was 13 months (min. 0, max. 103). Common symptoms included: impairment of motor skills (78%), impairment of mineralization (72%), premature loss of teeth (64%), musculoskeletal pain and craniosynostosis (each 64%) and failure to thrive (62%). Up to now 20 patients started medical treatment with Asfotase alfa.
Conclusions
Reported findings support the clinical perception of HPP being a chronic multi-systemic disease with often delayed diagnosis. Our natural history information provides detailed insights into the prevalence of different symptoms, which can help to improve and shorten diagnostics and thereby lead to an optimised medical care, especially with promising therapeutic options such as enzyme-replacement-therapy with Asfotase alfa in mind.
Orphanet Journal of Rare Diseases
10.1186/s13023-020-01500-x
urn:nbn:de:bvb:20-opus-230505
publish
Orphanet Journal of Rare Diseases (2020) 15:212 https://doi.org/10.1186/s13023-020-01500-x
CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International
Marius Vogt
Hermann Girschick
Tilmann Schweitzer
Clemens Benoit
Annette Holl-Wieden
Lothar Seefried
Franz Jakob
Christine Hofmann
eng
uncontrolled
hypophosphatasia
eng
uncontrolled
alkaline phosphatase
eng
uncontrolled
asfotase alfa
eng
uncontrolled
rare bone disease
eng
uncontrolled
osteomalacia
eng
uncontrolled
rickets
Medizin und Gesundheit
open_access
Kinderklinik und Poliklinik
Neurochirurgische Klinik und Poliklinik
Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Lehrstuhl für Orthopädie
Förderzeitraum 2020
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/23050/s13023-020-01500-x.pdf