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Articles

230 result(s) for 'AGREE II assessment' within Orphanet Journal of Rare Diseases

Page 1 of 5

  1. Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There ar...

    Authors: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü…
    Citation: Orphanet Journal of Rare Diseases 2023 18:85
  2. Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

    Authors: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie…
    Citation: Orphanet Journal of Rare Diseases 2020 15:253
  3. Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...

    Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell…
    Citation: Orphanet Journal of Rare Diseases 2018 13:50
  4. Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior a...

    Authors: Karen S. Yee, Yanyu Wu, Magdalena Harrington and Susan E. Waisbren
    Citation: Orphanet Journal of Rare Diseases 2021 16:501
  5. Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focu...

    Authors: Iain A. Bruce, Fatih S. Ezgü, Christoph Kampmann, Vladimir Kenis, William Mackenzie, Bob Stevens, Robert Walker and Christian Hendriksz
    Citation: Orphanet Journal of Rare Diseases 2022 17:91
  6. Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the ...

    Authors: Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas…
    Citation: Orphanet Journal of Rare Diseases 2015 10:164

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2016 11:147

  7. Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statemen...

    Authors: Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer…
    Citation: Orphanet Journal of Rare Diseases 2021 16:185
  8. Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction sin...

    Authors: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto and Alessandro P. Burlina
    Citation: Orphanet Journal of Rare Diseases 2022 17:443

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:44

  9. Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidenc...

    Authors: Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Klane K. White
    Citation: Orphanet Journal of Rare Diseases 2021 16:31
  10. Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation manage...

    Authors: R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli and C. Ruosi
    Citation: Orphanet Journal of Rare Diseases 2022 17:255
  11. A total of 87 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) disease-modifying interventions (enzyme ... two r...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…
    Citation: Orphanet Journal of Rare Diseases 2019 14:137
  12. Patients with rare diseases such as congenital hypogonadotropic hypogonadism (CHH) are dispersed, often challenged to find specialized care and face other health disparities. The internet has the potential to ...

    Authors: Andrew A Dwyer, Richard Quinton, Diane Morin and Nelly Pitteloud
    Citation: Orphanet Journal of Rare Diseases 2014 9:83
  13. Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive ...

    Authors: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton and Cara O’Neill
    Citation: Orphanet Journal of Rare Diseases 2022 17:391
  14. In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected ...

    Authors: P. K. Tandon and Emil D. Kakkis
    Citation: Orphanet Journal of Rare Diseases 2021 16:183
  15. Echocardiographic upper normal limits of both main pulmonary artery (MPA) diameters (MPA-d) and ratio of MPA to aortic root diameter (MPA-r) are not defined in healthy adults. Accordingly, frequency of MPA dil...

    Authors: Sara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, Meike Rybczynski, Mathias Hillebrand, Helke Schüler, Alexander M Bernhardt, Dietmar Koschyk, Peter Bannas, Britta Keyser, Kai Mortensen, Robert M Radke, Thomas S Mir, Tilo Kölbel, Peter N Robinson, Jörg Schmidtke…
    Citation: Orphanet Journal of Rare Diseases 2014 9:203
  16. Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) ...

    Authors: Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann and Barbara K. Burton
    Citation: Orphanet Journal of Rare Diseases 2021 16:456
  17. Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...

    Authors: Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Ravi Savarirayan
    Citation: Orphanet Journal of Rare Diseases 2020 15:161
  18. A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) ... vision and r...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…
    Citation: Orphanet Journal of Rare Diseases 2019 14:118
  19. The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors. Given the wide range of NF symptoms and medical specialties involved ...

    Authors: Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin and Justin T. Jordan
    Citation: Orphanet Journal of Rare Diseases 2022 17:44
  20. Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologi...

    Authors: Elina Holopainen, Svetlana Vakkilainen and Outi Mäkitie
    Citation: Orphanet Journal of Rare Diseases 2018 13:207
  21. Several scales have been developed in the past two decades to evaluate Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in ea...

    Authors: William Evans, Marc Patterson, Frances Platt, Christina Guldberg, Toni Mathieson and Jessica Pacey
    Citation: Orphanet Journal of Rare Diseases 2021 16:482
  22. Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated...

    Authors: Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay and Laurence Le Moyec
    Citation: Orphanet Journal of Rare Diseases 2019 14:222
  23. A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodi...

    Authors: Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson…
    Citation: Orphanet Journal of Rare Diseases 2019 14:180
  24. Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of indivi...

    Authors: Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola…
    Citation: Orphanet Journal of Rare Diseases 2018 13:125
  25. Systemic necrotizing vasculitis comprises a group of diseases resembling polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophil...

    Authors: Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, Eric Hachulla, Alexandre Karras, Hélène Maillard, Thomas Papo, Xavier Puechal, Grégory Pugnet, Thomas Quemeneur, Maxime Samson, Camille Taille and Loïc Guillevin
    Citation: Orphanet Journal of Rare Diseases 2020 15(Suppl 2):351

    This article is part of a Supplement: Volume 15 Supplement 2

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:155

  26. A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study i...

    Authors: Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana and Jordi Pérez-López
    Citation: Orphanet Journal of Rare Diseases 2019 14:230
  27. The evaluation of clinical evidence takes account of health benefit (efficacy and safety) and the degree of certainty in the estimate of benefit. In orphan indications practical and ethical challenges in condu...

    Authors: Jaro Wex, Monika Szkultecka-Debek, Mariola Drozd, Sarah King and Natasa Zibelnik
    Citation: Orphanet Journal of Rare Diseases 2023 18:193
  28. Inexpensive medicines with a long history of use may currently be prescribed off-label for rare indications. Reimbursement is at the discretion of health insurance companies, and may be unpredictable. The example...

    Authors: Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren and Martina C. Cornel
    Citation: Orphanet Journal of Rare Diseases 2017 12:88
  29. As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach was explored as a means o...

    Authors: Elin Haf Davies, Jean Johnston, Camilo Toro and Cynthia J. Tifft
    Citation: Orphanet Journal of Rare Diseases 2020 15:199
  30. Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra...

    Authors: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt and Yuji Sato
    Citation: Orphanet Journal of Rare Diseases 2024 19:104
  31. National payers across Europe have been increasingly looking into innovative reimbursement approaches – called managed entry agreements (MEAs) – to balance the need to provide rapid access to potentially benef...

    Authors: Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2013 8:198
  32. Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to ca...

    Authors: Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince and Oliver Semler
    Citation: Orphanet Journal of Rare Diseases 2023 18:34
  33. Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...

    Authors: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle…
    Citation: Orphanet Journal of Rare Diseases 2020 15:164
  34. For communities of people living with hemophilia and other genetic conditions, gene therapy could represent a paradigm shift in treatment strategies. As investigational therapeutic modalities such as gene ther...

    Authors: Daniel P. Hart, Brian R. Branchford, Sarah Hendry, Robert Ledniczky, Robert F. Sidonio Jr., Claude Négrier, Michelle Kim, Michelle Rice, Matthew Minshall, Claire Arcé, Steve Prince, Maria Kelleher and Sharon Lee
    Citation: Orphanet Journal of Rare Diseases 2021 16:189
  35. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes ...

    Authors: Anna Tylki-SzymaÅ„ska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:136
  36. Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycos...

    Authors: Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio Neto and Flavia David João de Masi Nassif
    Citation: Orphanet Journal of Rare Diseases 2021 16:382
  37. Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or ...

    Authors: Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer, Nancy Vegas, Jeanne Amiel, Gérard Couly, Arnaud Picard, Laurence Vaivre-Douret and Véronique Abadie
    Citation: Orphanet Journal of Rare Diseases 2021 16:442
  38. Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy...

    Authors: Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha and Roger Cornwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:406

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:438

  39. With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.T...

    Authors: M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie and S.F. Ahmed
    Citation: Orphanet Journal of Rare Diseases 2017 12:56
  40. Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there ar...

    Authors: Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger and Simon A Jones
    Citation: Orphanet Journal of Rare Diseases 2017 12:117
  41. In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate ...

    Authors: Ana Requena-Méndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon and Antoni Plasència
    Citation: Orphanet Journal of Rare Diseases 2020 15:291
  42. Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ...

    Authors: Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano and David Alexanderian
    Citation: Orphanet Journal of Rare Diseases 2024 19:110
  43. Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast,...

    Authors: Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando…
    Citation: Orphanet Journal of Rare Diseases 2020 15:201
  44. The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum...

    Authors: Cristina Ponte, Nikita Khmelinskii, Vítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelão, Ana Cordeiro…
    Citation: Orphanet Journal of Rare Diseases 2020 15:110
  45. Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this ma...

    Authors: Carmen Liy-Wong, Cristina Tarango, Elena Pope, Thomas Coates, Anna L. Bruckner, James A. Feinstein, Agnes Schwieger-Briel, Lynne D. Hubbard, Clapham Jane, Mauricio Torres-Pradilla, Matija Zmazek and Irene Lara-Corrales
    Citation: Orphanet Journal of Rare Diseases 2023 18:38
  46. Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therape...

    Authors: Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Steve Vucic, Matthew C. Kiernan, Nadine A. Kasparian and Michelle A. Farrar
    Citation: Orphanet Journal of Rare Diseases 2020 15:70
  47. Children with medical complexity (CMC) require long-term care accompanied by different health- and social care professionals. Depending on the severity of the chronic condition, caregivers spend a lot of time ...

    Authors: Jana Willems, Isabella Bablok, Erik Farin-Glattacker and Thorsten Langer
    Citation: Orphanet Journal of Rare Diseases 2023 18:136
  48. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreate...

    Authors: A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn…
    Citation: Orphanet Journal of Rare Diseases 2017 12:162
  49. Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as pat...

    Authors: Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2020 15:114