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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optic...

    Authors: Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol and Simon Dulz

    Citation: Orphanet Journal of Rare Diseases 2019 14:296

    Content type: Research

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  26. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is ...

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

    Citation: Orphanet Journal of Rare Diseases 2019 14:292

    Content type: Research

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  27. Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). Howe...

    Authors: Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens…

    Citation: Orphanet Journal of Rare Diseases 2019 14:285

    Content type: Research

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  28. The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (P...

    Authors: Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo and Vincenzo Leuzzi

    Citation: Orphanet Journal of Rare Diseases 2019 14:273

    Content type: Research

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  29. Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threa...

    Authors: Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips and Chris Stinton

    Citation: Orphanet Journal of Rare Diseases 2019 14:258

    Content type: Review

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  30. Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...

    Authors: Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner and Martina Huemer

    Citation: Orphanet Journal of Rare Diseases 2019 14:248

    Content type: Research

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  31. Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart.

    Authors: Kun Zhang, Ulrike Reuner, Marie Weidauer, Uwe Speiser, Karim Ibrahim, Marian Christoph, Frank R. Heinzel, Burkert Pieske, Felix M. Heidrich and Silvio Quick

    Citation: Orphanet Journal of Rare Diseases 2019 14:244

    Content type: Letter to the Editor

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  32. Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents ske...

    Authors: Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang…

    Citation: Orphanet Journal of Rare Diseases 2019 14:234

    Content type: Research

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  33. PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first y...

    Authors: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2019 14:231

    Content type: Research

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  34. Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review ...

    Authors: Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:226

    Content type: Review

    Published on:

  35. 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

    Content type: Research

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  36. Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:217

    Content type: Research

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  37. Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...

    Authors: Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger and Uwe Querfeld

    Citation: Orphanet Journal of Rare Diseases 2019 14:213

    Content type: Research

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  38. Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease res...

    Authors: Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes and Elin Haf Davies

    Citation: Orphanet Journal of Rare Diseases 2019 14:212

    Content type: Research

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  39. Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully unde...

    Authors: Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2019 14:208

    Content type: Research

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  40. The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles o...

    Authors: Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer and Laura E. Laróvere

    Citation: Orphanet Journal of Rare Diseases 2019 14:203

    Content type: Research

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  41. Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, includi...

    Authors: Eric T. Rush, Scott Moseley and Anna Petryk

    Citation: Orphanet Journal of Rare Diseases 2019 14:201

    Content type: Research

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  42. Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizur...

    Authors: K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder and F. Rutsch

    Citation: Orphanet Journal of Rare Diseases 2019 14:181

    Content type: Research

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  43. In 2009 the European Commission called for National action plans (NAP) to improve the care for persons with rare diseases. Germany set up a NAP in 2013 suggesting a three-tiered structure of co-operating cente...

    Authors: U. Plöckinger and A. Ziagaki

    Citation: Orphanet Journal of Rare Diseases 2019 14:158

    Content type: Position statement

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  44. MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in cross border healthcare. MetabERN associates 69 centres in 18 countries...

    Authors: Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2019 14:119

    Content type: Research

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  45. The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.

    Authors: Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li and Chaodong Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:109

    Content type: Research

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  46. Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    Authors: M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert…

    Citation: Orphanet Journal of Rare Diseases 2019 14:86

    Content type: Research

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