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Inherited metabolic diseases

The inherited metabolic diseases (IMD) section publishes original research (clinical, biochemical, and genetic), well-phenotyped case series, clinical trial outcome reports, and comprehensive reviews of rare inherited disorders of metabolism.

Submissions that increase our understanding or make new observations regarding IMD are particularly welcome. Detailed natural history studies of well-phenotyped case series, and publication of consensus statements on investigation and management of IMD, including collaborations between centres, are encouraged.

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  1. Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessiv...

    Authors: G. Hazan, E. Hershkovitz and O. Staretz-Chacham

    Citation: Orphanet Journal of Rare Diseases 2020 15:331

    Content type: Research

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  2. Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochond...

    Authors: Ana Vitoria Barban Margutti, Wilson Araújo Silva Jr., Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza…

    Citation: Orphanet Journal of Rare Diseases 2020 15:309

    Content type: Research

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  3. We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propion...

    Authors: Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2020 15:306

    Content type: Letter to the Editor

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  4. The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. T...

    Authors: Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente…

    Citation: Orphanet Journal of Rare Diseases 2020 15:298

    Content type: Research

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  5. Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay...

    Authors: Zahra Beyzaei, Bita Geramizadeh and Sara Karimzadeh

    Citation: Orphanet Journal of Rare Diseases 2020 15:286

    Content type: Review

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  6. Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of th...

    Authors: Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley and Javier Corral

    Citation: Orphanet Journal of Rare Diseases 2020 15:280

    Content type: Research

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  7. Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal...

    Authors: Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu and Lianshu Han

    Citation: Orphanet Journal of Rare Diseases 2020 15:276

    Content type: Research

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  8. Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested o...

    Authors: Arianna Maiorana, Antonella Sabia, Tiziana Corsetti and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2020 15:274

    Content type: Letter to the Editor

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  9. Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness dat...

    Authors: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska and Nicole M. Muschol

    Citation: Orphanet Journal of Rare Diseases 2020 15:271

    Content type: Research

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  10. Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with ...

    Authors: Tracy Brock Lowe, Jane DeLuca and Georgianne L. Arnold

    Citation: Orphanet Journal of Rare Diseases 2020 15:266

    Content type: Review

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  11. How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In...

    Authors: Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio and Generoso Andria

    Citation: Orphanet Journal of Rare Diseases 2020 15:262

    Content type: Position statement

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  12. Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD)....

    Authors: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet and K. Michael Gibson

    Citation: Orphanet Journal of Rare Diseases 2020 15:261

    Content type: Research

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  13. PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mann...

    Authors: Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:258

    Content type: Research

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  14. Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA...

    Authors: Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd and Aneal Khan

    Citation: Orphanet Journal of Rare Diseases 2020 15:251

    Content type: Research

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  15. The Roma are a European ethnic minority threatened by several recessive diseases.

    Authors: Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova and Pavel Seeman

    Citation: Orphanet Journal of Rare Diseases 2020 15:222

    Content type: Research

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  16. Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, ...

    Authors: Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo and Kimitoshi Nakamura

    Citation: Orphanet Journal of Rare Diseases 2020 15:220

    Content type: Research

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  17. Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropen...

    Authors: Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2020 15:218

    Content type: Research

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  18. Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical pres...

    Authors: Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob and Christine Hofmann

    Citation: Orphanet Journal of Rare Diseases 2020 15:212

    Content type: Research

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  19. Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults w...

    Authors: Karim Gariani, Marina Nascimento, Andrea Superti-Furga and Christel Tran

    Citation: Orphanet Journal of Rare Diseases 2020 15:210

    Content type: Research

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  20. Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants w...

    Authors: Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer IV, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou and Howard M. Saal

    Citation: Orphanet Journal of Rare Diseases 2020 15:204

    Content type: Research

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  21. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:171

    Content type: Review

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:230

  22. Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients...

    Authors: Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng…

    Citation: Orphanet Journal of Rare Diseases 2020 15:200

    Content type: Research

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  23. X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activ...

    Authors: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala and Zulf Mughal

    Citation: Orphanet Journal of Rare Diseases 2020 15:172

    Content type: Research

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  24. Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mor...

    Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang and Zhi-Jun Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:154

    Content type: Research

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  25. Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about h...

    Authors: Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield and Robert Hoehndorf

    Citation: Orphanet Journal of Rare Diseases 2020 15:146

    Content type: Research

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  26. Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ...

    Authors: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal…

    Citation: Orphanet Journal of Rare Diseases 2020 15:126

    Content type: Review

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:202

  27. Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...

    Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz

    Citation: Orphanet Journal of Rare Diseases 2020 15:124

    Content type: Research

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  28. Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF

    Authors: Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni and Tieliu Shi

    Citation: Orphanet Journal of Rare Diseases 2020 15:108

    Content type: Research

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  29. Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case st...

    Authors: Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson and Janneke G. Langendonk

    Citation: Orphanet Journal of Rare Diseases 2020 15:105

    Content type: Research

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  30. Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has ...

    Authors: Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello and Daniela Melis

    Citation: Orphanet Journal of Rare Diseases 2020 15:99

    Content type: Research

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  31. Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause o...

    Authors: Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao and Xiaoqing Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:98

    Content type: Research

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  32. The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision,...

    Authors: Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:97

    Content type: Review

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  33. The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...

    Authors: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen…

    Citation: Orphanet Journal of Rare Diseases 2020 15:89

    Content type: Research

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  34. Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden...

    Authors: Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2020 15:87

    Content type: Research

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  35. This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (T...

    Authors: Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen and M. Rebecca Heiner-Fokkema

    Citation: Orphanet Journal of Rare Diseases 2020 15:82

    Content type: Research

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  36. Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA...

    Authors: H. A. Haijes, J. J. M. Jans, M. van der Ham, P. M. van Hasselt and N. M. Verhoeven-Duif

    Citation: Orphanet Journal of Rare Diseases 2020 15:68

    Content type: Research

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  37. Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early th...

    Authors: Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz

    Citation: Orphanet Journal of Rare Diseases 2020 15:61

    Content type: Research

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  38. Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the gener...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes

    Citation: Orphanet Journal of Rare Diseases 2020 15:56

    Content type: Research

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  39. Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrat...

    Authors: Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus and Michel Tchan

    Citation: Orphanet Journal of Rare Diseases 2020 15:53

    Content type: Research

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  40. Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. One of the main obstacles in studying AKU, and other ultra-rare diseases, i...

    Authors: Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi and Annalisa Santucci

    Citation: Orphanet Journal of Rare Diseases 2020 15:46

    Content type: Research

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  41. Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed ...

    Authors: Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim and Han-Wook Yoo

    Citation: Orphanet Journal of Rare Diseases 2020 15:45

    Content type: Research

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  42. Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellect...

    Authors: Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2020 15:42

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:238

  43. Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....

    Authors: Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler…

    Citation: Orphanet Journal of Rare Diseases 2020 15:12

    Content type: Review

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  44. Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness invo...

    Authors: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault and Roberto Araujo

    Citation: Orphanet Journal of Rare Diseases 2020 15:11

    Content type: Research

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  45. The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage...

    Authors: Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:3

    Content type: Research

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