Orphanet journal of rare diseases

Keyphrases

Publications

volume 19, number 1, 2024

Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara, Norio Sakai
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan. Orphanet journal of rare diseases 19 (1) (2024)
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)
Saki Yokoshiki, Teruyo Arato
Implementation status of pharmacological studies in the development of orphan drugs. Orphanet journal of rare diseases 19 (1) (2024)
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend Christiaan Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, null null, Ronald J A Wanders, Francois Hendrikus van der Westhuizen
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 19 (1) (2024)
Ting-Yu Su, Yu-Chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings. Orphanet journal of rare diseases 19 (1) (2024)
Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Tevfik Demir, Ilgin Yildirim Simsir, Ozlem Kuman Tuncel, Burcu Ozbaran, Ilker Yildirim, Sebnem Pirildar, Samim Ozen, Barış Akıncı
Impact of lipodystrophy on health-related quality of life: the QuaLip study. Orphanet journal of rare diseases 19 (1) (2024)
Bing Wang, Ruiqing Ma, Guanjun Shi, Xiwen Fan, Ben-Qiang Rao, Hongbin Xu
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China. Orphanet journal of rare diseases 19 (1) (2024)
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yu-Ming Xu
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. Orphanet journal of rare diseases 19 (1) (2024)
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)
Michal Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M Kłopotowski, Monika Komar, Mariusz A Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, null null
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yu-Ming Xu
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. Orphanet journal of rare diseases 19 (1) (2024)
Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E Poulin, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei, Paul Wuh-Liang Hwu
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients. Orphanet journal of rare diseases 19 (1) (2024)
Matthias Boentert, Kenneth I Berger, Jordi Díaz-Manera, Mazen M Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J Jaime Caro
Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease. Orphanet journal of rare diseases 19 (1) (2024)
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend Christiaan Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, null null, Ronald J A Wanders, Francois Hendrikus van der Westhuizen
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 19 (1) (2024)
Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara, Norio Sakai
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan. Orphanet journal of rare diseases 19 (1) (2024)
Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D Foehr
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts. Orphanet journal of rare diseases 19 (1) (2024)
Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia. Orphanet journal of rare diseases 19 (1) (2024)
Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D Foehr
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts. Orphanet journal of rare diseases 19 (1) (2024)
Saki Yokoshiki, Teruyo Arato
Implementation status of pharmacological studies in the development of orphan drugs. Orphanet journal of rare diseases 19 (1) (2024)
Ting-Yu Su, Yu-Chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings. Orphanet journal of rare diseases 19 (1) (2024)
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex. Orphanet journal of rare diseases 19 (1) (2024)
Bing Wang, Ruiqing Ma, Guanjun Shi, Xiwen Fan, Ben-Qiang Rao, Hongbin Xu
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China. Orphanet journal of rare diseases 19 (1) (2024)
Saki Yokoshiki, Teruyo Arato
Implementation status of pharmacological studies in the development of orphan drugs. Orphanet journal of rare diseases 19 (1) (2024)
Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia. Orphanet journal of rare diseases 19 (1) (2024)
Bryan Sisk, Sunny Lin, Anna M Kerr
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system. Orphanet journal of rare diseases 19 (1) (2024)
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex. Orphanet journal of rare diseases 19 (1) (2024)
Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu, Huan Yang
Comparative effectiveness and safety of intravenous methylprednisolone and tacrolimus monotherapy in ocular myasthenia gravis with unsatisfactory prednisone responses: a retrospective study. Orphanet journal of rare diseases 19 (1) (2024)
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend Christiaan Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, null null, Ronald J A Wanders, Francois Hendrikus van der Westhuizen
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 19 (1) (2024)
Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E Poulin, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei, Paul Wuh-Liang Hwu
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients. Orphanet journal of rare diseases 19 (1) (2024)
Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Matthias Boentert, Kenneth I Berger, Jordi Díaz-Manera, Mazen M Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J Jaime Caro
Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease. Orphanet journal of rare diseases 19 (1) (2024)
Tevfik Demir, Ilgin Yildirim Simsir, Ozlem Kuman Tuncel, Burcu Ozbaran, Ilker Yildirim, Sebnem Pirildar, Samim Ozen, Barış Akıncı
Impact of lipodystrophy on health-related quality of life: the QuaLip study. Orphanet journal of rare diseases 19 (1) (2024)
Michal Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M Kłopotowski, Monika Komar, Mariusz A Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, null null
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Bing Wang, Ruiqing Ma, Guanjun Shi, Xiwen Fan, Ben-Qiang Rao, Hongbin Xu
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China. Orphanet journal of rare diseases 19 (1) (2024)
Tevfik Demir, Ilgin Yildirim Simsir, Ozlem Kuman Tuncel, Burcu Ozbaran, Ilker Yildirim, Sebnem Pirildar, Samim Ozen, Barış Akıncı
Impact of lipodystrophy on health-related quality of life: the QuaLip study. Orphanet journal of rare diseases 19 (1) (2024)
Elsa Izquierdo-García, Andrea Lazaro, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra, Ismael Escobar Rodríguez
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance. Orphanet journal of rare diseases 19 (1) (2024)
Elsa Izquierdo-García, Andrea Lazaro, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra, Ismael Escobar Rodríguez
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance. Orphanet journal of rare diseases 19 (1) (2024)
Verajit Chotmongkol, Seththawut Kosallavat, Kittisak Sawanyawisuth, Sittichai Khamsai, Narongrit Kasemsap, Nisa Vorasoot, Kannikar Kongbunkiat, Somsak Tiamkao, Prajuab Chaimanee
Evaluation of seegene anyplex MTB/NTM real-time detection assay for diagnosis of tuberculous meningitis. Orphanet journal of rare diseases 19 (1) (2024)
Ting-Yu Su, Yu-Chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings. Orphanet journal of rare diseases 19 (1) (2024)
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yu-Ming Xu
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. Orphanet journal of rare diseases 19 (1) (2024)
Bryan Sisk, Sunny Lin, Anna M Kerr
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system. Orphanet journal of rare diseases 19 (1) (2024)
Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia. Orphanet journal of rare diseases 19 (1) (2024)
Verajit Chotmongkol, Seththawut Kosallavat, Kittisak Sawanyawisuth, Sittichai Khamsai, Narongrit Kasemsap, Nisa Vorasoot, Kannikar Kongbunkiat, Somsak Tiamkao, Prajuab Chaimanee
Evaluation of seegene anyplex MTB/NTM real-time detection assay for diagnosis of tuberculous meningitis. Orphanet journal of rare diseases 19 (1) (2024)
Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review. Orphanet journal of rare diseases 19 (1) (2024)
Marit Schwantje, Sarah C Grünert, Sabine A Fuchs
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey. Orphanet journal of rare diseases 19 (1) (2024)
Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu, Huan Yang
Comparative effectiveness and safety of intravenous methylprednisolone and tacrolimus monotherapy in ocular myasthenia gravis with unsatisfactory prednisone responses: a retrospective study. Orphanet journal of rare diseases 19 (1) (2024)
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex. Orphanet journal of rare diseases 19 (1) (2024)
Verajit Chotmongkol, Seththawut Kosallavat, Kittisak Sawanyawisuth, Sittichai Khamsai, Narongrit Kasemsap, Nisa Vorasoot, Kannikar Kongbunkiat, Somsak Tiamkao, Prajuab Chaimanee
Evaluation of seegene anyplex MTB/NTM real-time detection assay for diagnosis of tuberculous meningitis. Orphanet journal of rare diseases 19 (1) (2024)
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)