المؤلفون: Susanna Rizzi, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, Laura Demuth, Duccio Maria Cordelli, Giacomo Biasucci, Daniele Frattini, Carlo Fusco

المصدر: Genes, Vol 14, Iss 9, p 1828 (2023)

مصطلحات موضوعية: AADC, Aromatic L-amino-acid decarboxylase deficiency, neurodevelopmental disorder, metabolic disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/9/1828; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/3bceafc0550f4a6a96f6db58e3963fde

المؤلفون: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: ANTXR2, Biomarker, Farber disease, Genotype-phenotype correlation, Hyaline fibromatosis syndrome, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1183-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ad6e189b819e470e8448785fa1427c99

المؤلفون: Tama Dinur, Ari Zimran, Michal Becker-Cohen, David Arkadir, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Shoshana Revel-Vilk

المصدر: Journal of Clinical Medicine, Vol 8, Iss 10, p 1662 (2019)

مصطلحات موضوعية: gaucher disease, type 1, untreated, adults, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/8/10/1662; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/2e7f18c47bcf458a9a46566896a5a750

المؤلفون: Noa Hurvitz, Tama Dinur, Michal Becker-Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Aya Abramov, Ari Zimran, Shoshana Revel-Vilk

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 12, p 3033 (2019)

مصطلحات موضوعية: Gaucher disease, glucosylsphingosine, lyso-Gb1, biomarker, children, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/20/12/3033; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/057f0c9b3db946978a9da519dbae14d3

المؤلفون: Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer

المصدر: Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001

مصطلحات موضوعية: Oncogene Proteins, Mucoproteins, Phenotype, Cystic Fibrosis, Mutation, Genetics, Cystic Fibrosis Transmembrane Conductance Regulator, Humans, Exome, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c4a0faa290a3077e80ae69e0f23f9e
https://doi.org/10.1136/jmedgenet-2021-108150

المؤلفون: Michal Becker-Cohen, Sebastian Oppermann, David Arkadir, Tama Dinur, Shoshana Revel-Vilk, Laura Demuth, Ari Zimran, Claudia Cozma, Arndt Rolfs, Marina Hovakimyan

المصدر: Journal of Clinical Medicine; Volume 8; Issue 10; Pages: 1662
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 8, Iss 10, p 1662 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Bone disease, Long term follow up, untreated, Hepatosplenomegaly, lcsh:Medicine, Disease, Gaucher disease, Asymptomatic, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, adults, Substrate reduction therapy, 030304 developmental biology, 0303 health sciences, Newborn screening, business.industry, lcsh:R, Type 1 Gaucher Disease, General Medicine, medicine.disease, type 1, 030220 oncology & carcinogenesis, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c41f61996618af8fd7ae45de479da3

المؤلفون: Magi Martin, Nawal Makhseed, Amal Alhashem, Peter Bauer, Nihal M. Al Menabawy, Tawfeg Ben-Omran, Laila Selim, Laura Demuth, Marius-Ionuț Iurașcu, Christian Beetz, Zafer Yüksel, Claudia Cozma, Mariam Almureikhi, Iman G Mahmoud, Arndt Rolfs, Marina Hovakimyan

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Genotype-phenotype correlation, Adolescent, Receptors, Peptide, lcsh:Medicine, 030105 genetics & heredity, Hyaline fibromatosis syndrome, Cohort Studies, 03 medical and health sciences, Exon, Hyalinosis, Systemic, Young Adult, 0302 clinical medicine, HYALINE FIBROMATOSIS SYNDROME, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Hyaline, Genetic Association Studies, Farber disease, integumentary system, business.industry, Research, lcsh:R, Infant, General Medicine, Biomarker, medicine.disease, Phenotype, Human genetics, ANTXR2, Farber Lipogranulomatosis, Child, Preschool, Cohort, Mutation, Biomarker (medicine), Female, business, 030217 neurology & neurosurgery, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8e801f4a28cdbcd792bc3f5e55a5c8
http://europepmc.org/articles/PMC6712857

المؤلفون: Claudia Cozma, Ari Zimran, Laura Demuth, Aya Abramov, Shoshana Revel-Vilk, Michal Becker-Cohen, Sebastian Oppermann, Tama Dinur, Arndt Rolfs, Noa Hurvitz, Marina Hovakimyan

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 12, p 3033 (2019)
International Journal of Molecular Sciences

مصطلحات موضوعية: Male, 0301 basic medicine, Disease, Gaucher disease, Hemoglobin levels, Gastroenterology, lcsh:Chemistry, 0302 clinical medicine, Medicine, Child, lcsh:QH301-705.5, Spectroscopy, Communication, General Medicine, Enzyme replacement therapy, respiratory system, Computer Science Applications, Dried blood spot, Clinic visit, Child, Preschool, Glucosylceramidase, Biomarker (medicine), biomarker, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, medicine.medical_specialty, Adolescent, glucosylsphingosine, lyso-Gb1, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Disease severity, children, Internal medicine, Humans, Enzyme Replacement Therapy, Physical and Theoretical Chemistry, Molecular Biology, business.industry, Organic Chemistry, Psychosine, Infant, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, business, Weight gain, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333d9bfa281e5fd6a315e199a764afb6
https://www.mdpi.com/1422-0067/20/12/3033

المؤلفون: Christian Beetz, Laura Demuth, Peter Bauer, Marina Hovakymian, Arndt Rolfs, Marius Iurascu, Claudia Cozma

المصدر: Molecular Genetics and Metabolism. 129:S43

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Endocrinology, HYALINE FIBROMATOSIS SYNDROME, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Medicine, business, Molecular Biology, Biochemistry, Large cohort

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b0bd125fb757d588b4bcf05801187452
https://doi.org/10.1016/j.ymgme.2019.11.090

المؤلفون: Arndt Rolfs, Marina Hovakymian, Sebastian Oppermann, Laura Demuth, Christian Beetz, Claudia Cozma

المصدر: Molecular Genetics and Metabolism. 129:S43

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Disease, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad1fc90712b55702623b3fbff64eee1e
https://doi.org/10.1016/j.ymgme.2019.11.089