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A. Sólyom · SciRah

Researcher profile · Semantic Scholar

A. Sólyom

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A. Sólyom — researcher profile on SciRah

h-index: 10
Works: 40
Citations: 337

Most-cited papers

Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment
M. Frohbergh, Y. Ge, Fan-Li Meng, N. Karabul +5 more
2014PLoS ONE44 citations Open access
Semantic Scholar
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice
Xing-Xuan He, Shaalee Dworski, Changzhi Zhu, Victor A. DeAngelis +4 more
2017BBA Clinical42 citations Open access
Semantic Scholar
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study
J. Hennermann, Seyfullah Gökce, A. Sólyom, E. Mengel +2 more
2016Journal of Inherited Metabolic Disease41 citations
Semantic Scholar
Acid Ceramidase Deficiency is Characterized by a Unique Plasma Cytokine and Ceramide Profile that is Altered by Therapy
Shaalee Dworski, P. Lu, Aneal Khan, B. Maranda +23 more
2016Biochimica et Biophysica Acta - Molecular Basis of Disease37 citations Open access
Semantic Scholar
Cross-cultural adaptation of the disabilities of the arm, shoulder, and hand (DASH) questionnaire into Hungarian and investigation of its validity in patients with systemic sclerosis.
C. Varjú, Z. Bálint, A. Sólyom, H. Farkas +5 more
2008Clinical and Experimental Rheumatology31 citations
Semantic Scholar
Aspirin Resistance
Gergely Fehér, K. Koltai, E. Papp, B. Alkonyi +5 more
2006Drugs & Aging23 citations
Semantic Scholar
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
S. Elsea, A. Sólyom, Kirt Martin, P. Harmatz +20 more
2020Human Mutation21 citations Open access
Semantic Scholar
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency
H. Teoh, A. Sólyom, E. Schuchman, D. Mowat +3 more
2016Pediatrics19 citations Open access
Semantic Scholar
The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders:
K. Komlosi, A. Sólyom, M. Beck
201613 citations Open access
Semantic Scholar
Immunogenicity of a 2009 pandemic influenza virus A H1N1 vaccine, administered simultaneously with the seasonal influenza vaccine, in children receiving chemotherapy
G. Ottóffy, P. Horváth, Lajos Muth, A. Sólyom +6 more
2014Pediatric Blood & Cancer11 citations
Semantic Scholar
ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
I. Mahmoud, M. A. Elmonem, M. Zaki, A. Ramadan +11 more
2020Clinical Genetics9 citations Open access
Semantic Scholar
Morbidity and mortality associated with Farber disease and prospects for therapy
E. Schuchman, John J. Mitchell, A. Sólyom
20179 citations
Semantic Scholar
Farber disease: Implications of anti-inflammatory treatment
John J. Mitchell, A. Sólyom, B. Makay, N. Arslan +5 more
20169 citations
Semantic Scholar
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
M. M. Lee, Graeme S. V. McDowell, D. De Vivo, Daniel Friedman +13 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation
A. Sólyom, N. Karabul, B. Hügle, C. Simonaro +1 more
2014Pediatric Rheumatology Online Journal6 citations Open access
Semantic Scholar
Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed
A. Sólyom, E. O. Nwosu, John J. Mitchell, M. Beck +3 more
20173 citations Open access
Semantic Scholar
Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural history and phenotypic spectrum of patients, including novel methodologies for assessment of disease-specific symptoms
A. Sólyom, John J. Mitchell, M. Beck, B. Hügle +1 more
20173 citations
Semantic Scholar
SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients
A. Sólyom, K. Ehlert, B. Hügle, B. Magnusson +11 more
20152 citations
Semantic Scholar
Acid ceramidase deficiency: Clinical implications of an emerging phenotypic spectrum and potential therapies
A. Sólyom, C. Simonaro, Xing-Xuan He, E. Schuchman
20152 citations
Semantic Scholar
Safety study of sodium pentosan polysulfate for adult patients with mucopolysaccharidosis type II
K. Orii, S. Tomatsu, Yasuyuki Suzuki, A. Sólyom +5 more
20161 citations
Semantic Scholar
Treatment with pentosan polysulphate in patients with mucopolysaccharidosis type I: Results from an open label, randomized, monocentric phase 2 study
J. Hennermann, Seyfullah Goekce, A. Sólyom, E. Mengel +2 more
20161 citations
Semantic Scholar
Pentosan polysulfate: New mechanistic insights and treatment of the mucopolysaccharidoses
C. Simonaro, S. Tomatsu, Y. Ge, Fan-Li Meng +7 more
20151 citations
Semantic Scholar
HISTOCHEMICAL AND BIOCHEMICAL STUDIES IN ACUTE POISONING WITH TANNIC ACID
E. Horvath, A. Sólyom, B. Korpássy
20071 citations
Semantic Scholar
DETECT LYSOSOMAL STORAGE DISEASES, A NO-CHARGE SPONSORED TESTING PROGRAM, ENABLES ACCESS TO GENETIC TESTING, TREATMENT, AND CLINICAL TRIALS FOR INDIVIDUALS WITH SUSPECTED LYSOSOMAL STORAGE DISORDERS
Britt A. Johnson, K. Crosby, Matthew Furgerson, F. Leal-Pardinas +4 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders
H. Mclaughlin, Michele Clarke, K. Crosby, Matthew Furgerson +6 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
POS0222 POLYARTICULAR ARTHRITIS AND ADULT-ONSET OSTEOLYSIS CAUSED BY MUTATIONS IN THE ASAH1 GENE: FARBER DISEASE CLINICAL PRESENTATIONS IN THE CONTEXT OF A FIRST-EVER NATURAL HISTORY STUDY
L. Seefried, K. Crosby, A. Sólyom
2022Annals of the Rheumatic Diseases0 citations Open access
Semantic Scholar
Farber disease clinical impact: Patient reported outcomes as a measure of disease burden
J. Mitchell, P. Harmatz, L. Selim, Iman Gamal Eldin +20 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Subcutaneous nodules as a clinical biomarker of Farber disease
J. Mitchell, P. Harmatz, L. Selim, Iman Gamal Eldin +20 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data
J. Mitchell, P. Harmatz, C. Grant, C. Ferreira +21 more
20200 citations
Semantic Scholar
A Young Infant with Joint Swellings and Subcutaneous Nodules
Aakanksha Choudhary, S. Bijarnia-Mahay, Divyani Garg, Bijoy Patra +2 more
2020Indian Journal of Pediatrics0 citations
Semantic Scholar
RVT-801, a developmental enzyme replacement therapy for Farber disease, ameliorates characteristic features of the disease phenotype in a Farber mouse model
Katherine S. Duke, C. Coquery, E. Gaukel, Xing-Xuan He +4 more
2019Molecular Genetics and Metabolism0 citations
Semantic Scholar
The pro-inflammatory immunophenotype of a Farber disease mouse model is ameliorated by repeated dosing with RVT-801, a developmental enzyme replacement therapy for Farber disease
B. Sampey, Katherine S. Duke, G. Sampey, E. Gaukel +7 more
2019Molecular Genetics and Metabolism0 citations
Semantic Scholar
Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study
A. Sólyom, C. Ferreira, J. Mitchell, N. Guelbert +19 more
2019Molecular Genetics and Metabolism0 citations
Semantic Scholar
Clinical study design for enzyme replacement therapy in acid ceramidase deficiency presenting as Farber disease, an ultra-rare condition with broad phenotypic heterogeneity
A. Sólyom, Brendan Johnson, A. Shih
20180 citations
Semantic Scholar
Loss of acid ceramidase activity in a murine model of Farber disease leads to an early and profound immuno-phenotype that reflects alterations in both the innate and adaptive immune cell populations
C. Coquery, B. Sampey, A. Sólyom, E. Gaukel +5 more
2018Journal of Immunology0 citations
Semantic Scholar
Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency
E. Schuchman, Xing-Xuan He, Shaalee Dworski, Changzhi Zhu +5 more
20170 citations
Semantic Scholar
Swarm Intelligence Meets Rule-Based Design Space Exploration
A. Sólyom, András Szabolcs Nagy
20160 citations
Semantic Scholar
Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients
A. Sólyom, John J. Mitchell, K. Ehlert, P. Tanpaiboon +16 more
20160 citations
Semantic Scholar
PReS-FINAL-2257: Pediatric rheumatology in a rare disease working group: examples of diagnoses
A. Sólyom, Bernadett Mosdósi, Z. Nyúl, K. Komlosi
2013Pediatric Rheumatology Online Journal0 citations Open access
Semantic Scholar
PReS-FINAL-2244: Ultrasound examination reveals typical alterations in joints of mucopolysaccharidosis (MPS) patients
Nesrin Karabul, M. Beck, A. Sólyom, E. Mengel +1 more
2013Pediatric Rheumatology Online Journal0 citations Open access
Semantic Scholar

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