Orphanet journal of rare diseases

Keyphrases

Publications

volume 18, number 1, 2023

Rosario Sanchez-Martinez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet journal of rare diseases 18 (1) (2023)
Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin, Annabel Maruani
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations. Orphanet journal of rare diseases 18 (1) (2023)
Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey
Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey. Orphanet journal of rare diseases 18 (1) (2023)
Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin, Annabel Maruani
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations. Orphanet journal of rare diseases 18 (1) (2023)
Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin, Annabel Maruani
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations. Orphanet journal of rare diseases 18 (1) (2023)
Ilana M Miller, Beverly M Yashar, null null, Ellen F Macnamara
Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet journal of rare diseases 18 (1) (2023)
Agnes Kocher, Michael Simon, Andrew A Dwyer, Catherine Blatter, Jasmina Bogdanovic, Patrizia Künzler-Heule, Peter M Villiger, Diana Dan, Oliver Distler, Ulrich A Walker, Dunja Nicca
Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study. Orphanet journal of rare diseases 18 (1) (2023)
Shanghua Fan, Ting Zhao, Liu Sun
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia. Orphanet journal of rare diseases 18 (1) (2023)
Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey
Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey. Orphanet journal of rare diseases 18 (1) (2023)
José Luis Poveda, Claudia Gómez, Alicia Gil, Xavier Badia
ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain. Orphanet journal of rare diseases 18 (1) (2023)
Richard Rui Yang
A patient advocating for transparent science in rare disease research. Orphanet journal of rare diseases 18 (1) (2023)
Richard Rui Yang
A patient advocating for transparent science in rare disease research. Orphanet journal of rare diseases 18 (1) (2023)
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies. Orphanet journal of rare diseases 18 (1) (2023)
Tiziano Pramparo, Robert D Steiner, Steve Rodems, Celia Jenkinson
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis. Orphanet journal of rare diseases 18 (1) (2023)
José Luis Poveda, Claudia Gómez, Alicia Gil, Xavier Badia
ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain. Orphanet journal of rare diseases 18 (1) (2023)
Charlotte Soumet-Leman, Jean-Yves Rotge, Pauline Delavaud, Zahir Amoura, Fleur Cohen-Aubart, Julien Haroche
Psychiatric disorders, personality and neuropsychological alterations in Erdheim-Chester disease. Orphanet journal of rare diseases 18 (1) (2023)
Agnes Kocher, Michael Simon, Andrew A Dwyer, Catherine Blatter, Jasmina Bogdanovic, Patrizia Künzler-Heule, Peter M Villiger, Diana Dan, Oliver Distler, Ulrich A Walker, Dunja Nicca
Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study. Orphanet journal of rare diseases 18 (1) (2023)
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies. Orphanet journal of rare diseases 18 (1) (2023)
Anna Cecilia Lawson McLean, Anna Freier, Aaron Lawson McLean, Johannes Kruse, Steffen Rosahl
The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity. Orphanet journal of rare diseases 18 (1) (2023)
Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey
Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey. Orphanet journal of rare diseases 18 (1) (2023)
Anna Cecilia Lawson McLean, Anna Freier, Aaron Lawson McLean, Johannes Kruse, Steffen Rosahl
The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity. Orphanet journal of rare diseases 18 (1) (2023)
Shanghua Fan, Ting Zhao, Liu Sun
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia. Orphanet journal of rare diseases 18 (1) (2023)
Shanghua Fan, Ting Zhao, Liu Sun
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia. Orphanet journal of rare diseases 18 (1) (2023)
Anna Cecilia Lawson McLean, Anna Freier, Aaron Lawson McLean, Johannes Kruse, Steffen Rosahl
The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity. Orphanet journal of rare diseases 18 (1) (2023)
L R Ranganath, Nicolas Sireau
Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review. Orphanet journal of rare diseases 18 (1) (2023)
Tiziano Pramparo, Robert D Steiner, Steve Rodems, Celia Jenkinson
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis. Orphanet journal of rare diseases 18 (1) (2023)
Richard Rui Yang
A patient advocating for transparent science in rare disease research. Orphanet journal of rare diseases 18 (1) (2023)
Tiziano Pramparo, Robert D Steiner, Steve Rodems, Celia Jenkinson
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis. Orphanet journal of rare diseases 18 (1) (2023)
Richard Rui Yang
A patient advocating for transparent science in rare disease research. Orphanet journal of rare diseases 18 (1) (2023)
Elizabeth Forsythe, Robert M Haws, Jesús Argente, Philip Beales, Gabriel Á Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C Buckley, Usha G Mallya, Karine Clément, Andrea M Haqq
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet journal of rare diseases 18 (1) (2023)
Elizabeth Forsythe, Robert M Haws, Jesús Argente, Philip Beales, Gabriel Á Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C Buckley, Usha G Mallya, Karine Clément, Andrea M Haqq
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet journal of rare diseases 18 (1) (2023)
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies. Orphanet journal of rare diseases 18 (1) (2023)
Richard Rui Yang
A patient advocating for transparent science in rare disease research. Orphanet journal of rare diseases 18 (1) (2023)
Charlotte Soumet-Leman, Jean-Yves Rotge, Pauline Delavaud, Zahir Amoura, Fleur Cohen-Aubart, Julien Haroche
Psychiatric disorders, personality and neuropsychological alterations in Erdheim-Chester disease. Orphanet journal of rare diseases 18 (1) (2023)
Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin, Annabel Maruani
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations. Orphanet journal of rare diseases 18 (1) (2023)
Rosario Sanchez-Martinez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet journal of rare diseases 18 (1) (2023)
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies. Orphanet journal of rare diseases 18 (1) (2023)
Ilana M Miller, Beverly M Yashar, null null, Ellen F Macnamara
Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet journal of rare diseases 18 (1) (2023)
Rosario Sanchez-Martinez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet journal of rare diseases 18 (1) (2023)
Ilana M Miller, Beverly M Yashar, null null, Ellen F Macnamara
Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet journal of rare diseases 18 (1) (2023)
Nathan Denton, Andrew E Mulberg, Monique Molloy, Samantha Charleston, David C Fajgenbaum, Eric D Marsh, Paul Howard
Correction to: Sharing is caring: a call for a new era of rare disease research and development. Orphanet journal of rare diseases 18 (1) (2023)
Shanghua Fan, Ting Zhao, Liu Sun
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia. Orphanet journal of rare diseases 18 (1) (2023)
José Luis Poveda, Claudia Gómez, Alicia Gil, Xavier Badia
ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain. Orphanet journal of rare diseases 18 (1) (2023)
L R Ranganath, Nicolas Sireau
Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review. Orphanet journal of rare diseases 18 (1) (2023)
Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore, Anita MacDonald
Phenylalanine free infant formula in the dietary management of phenylketonuria. Orphanet journal of rare diseases 18 (1) (2023)
Sarah Acaster, Siu Hing Lo, Sandra Nestler-Parr
A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis. Orphanet journal of rare diseases 18 (1) (2023)
Nathan Denton, Andrew E Mulberg, Monique Molloy, Samantha Charleston, David C Fajgenbaum, Eric D Marsh, Paul Howard
Correction to: Sharing is caring: a call for a new era of rare disease research and development. Orphanet journal of rare diseases 18 (1) (2023)
Nathan Denton, Andrew E Mulberg, Monique Molloy, Samantha Charleston, David C Fajgenbaum, Eric D Marsh, Paul Howard
Correction to: Sharing is caring: a call for a new era of rare disease research and development. Orphanet journal of rare diseases 18 (1) (2023)
José Luis Poveda, Claudia Gómez, Alicia Gil, Xavier Badia
ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain. Orphanet journal of rare diseases 18 (1) (2023)

volume 18, number Suppl 2, 2023

Lothar Seefried, Ali Alzahrani, Pedro Arango Sancho, Justine Bacchetta, Rachel Crowley, Francesco Emma, Jonathan Gibbins, Anna Grandone, Muhammad Kassim Javaid, Gabriel Mindler, Adalbert Raimann, Anya Rothenbuhler, Ian Tucker, Leonid Zeitlin, Agnès Linglart
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH). Orphanet journal of rare diseases 18 (Suppl 2) (2023)