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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. Content type: Research

    In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount an...

    Authors: A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen and A. MacDonald

    Citation: Orphanet Journal of Rare Diseases 2019 14:44

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  2. Content type: Review

    Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC 6.4.1.3). The...

    Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

    Citation: Orphanet Journal of Rare Diseases 2019 14:40

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  3. Content type: Research

    Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range ...

    Authors: Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding and Hilary J. Vernon

    Citation: Orphanet Journal of Rare Diseases 2019 14:37

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  4. Content type: Position statement

    Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulator...

    Authors: Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro and Vivian Kessler

    Citation: Orphanet Journal of Rare Diseases 2019 14:36

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  5. Content type: Review

    MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestina...

    Authors: Rana Yadak, Marjolein Breur and Marianna Bugiani

    Citation: Orphanet Journal of Rare Diseases 2019 14:33

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  6. Content type: Research

    Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression r...

    Authors: Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp and Marc Engelen

    Citation: Orphanet Journal of Rare Diseases 2019 14:30

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  7. Content type: Research

    Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of sc...

    Authors: Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little and Kumanan Wilson

    Citation: Orphanet Journal of Rare Diseases 2019 14:25

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  8. Content type: Research

    Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of tr...

    Authors: Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet and Amy Pender

    Citation: Orphanet Journal of Rare Diseases 2019 14:7

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  9. Content type: Letter to the Editor

    Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we ...

    Authors: Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang and Ni-Chung Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:6

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  10. Content type: Review

    The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied b...

    Authors: Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew and Nicola Longo

    Citation: Orphanet Journal of Rare Diseases 2018 13:219

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  11. Content type: Review

    Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, h...

    Authors: Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros and Vanessa dos Reis Ferreira

    Citation: Orphanet Journal of Rare Diseases 2018 13:215

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  12. Content type: Research

    Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.

    Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…

    Citation: Orphanet Journal of Rare Diseases 2018 13:212

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  13. Content type: Research

    People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a r...

    Authors: Kristen D Brantley, Teresa D Douglas and Rani H Singh

    Citation: Orphanet Journal of Rare Diseases 2018 13:192

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  14. Content type: Research

    Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the ...

    Authors: María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch and Jaume Campistol

    Citation: Orphanet Journal of Rare Diseases 2018 13:188

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  15. Content type: Research

    A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. T...

    Authors: Alice Bessey, James B Chilcott, Joanna Leaviss and Anthea Sutton

    Citation: Orphanet Journal of Rare Diseases 2018 13:179

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  16. Content type: Research

    Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in t...

    Authors: Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena and Ishwar C. Verma

    Citation: Orphanet Journal of Rare Diseases 2018 13:174

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  17. Content type: Letter to the Editor

    Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of a...

    Authors: Malte Lenders, Boris Schmitz, Stefan-Martin Brand and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2018 13:171

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  18. Content type: Position statement

    Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sa...

    Authors: Ania C. Muntau, Marcel du Moulin and Francois Feillet

    Citation: Orphanet Journal of Rare Diseases 2018 13:173

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  19. Content type: Research

    Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist i...

    Authors: Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran and Eileen P. Treacy

    Citation: Orphanet Journal of Rare Diseases 2018 13:164

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  20. Content type: Review

    Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the ...

    Authors: Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson and Louise Dye

    Citation: Orphanet Journal of Rare Diseases 2018 13:150

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  21. Content type: Review

    Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated...

    Authors: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen…

    Citation: Orphanet Journal of Rare Diseases 2018 13:149

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  22. Content type: Research

    Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible t...

    Authors: Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2018 13:146

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  23. Content type: Review

    The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the train...

    Authors: Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz and Luis A. Barrera

    Citation: Orphanet Journal of Rare Diseases 2018 13:141

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  24. Content type: Research

    Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical trials and inclusion criteria are currently mainly ba...

    Authors: Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp and Frances M. Platt

    Citation: Orphanet Journal of Rare Diseases 2018 13:143

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  25. Content type: Research

    Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, ...

    Authors: Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal and Raja Padidela

    Citation: Orphanet Journal of Rare Diseases 2018 13:142

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  26. Content type: Research

    Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we...

    Authors: Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke and Parastoo Rostami

    Citation: Orphanet Journal of Rare Diseases 2018 13:130

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  27. Content type: Research

    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

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  28. Content type: Research

    Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality. Outcome...

    Authors: Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann and Esther M. Maier

    Citation: Orphanet Journal of Rare Diseases 2018 13:122

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  29. Content type: Research

    Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study ...

    Authors: Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen and Michaela Kuhlen

    Citation: Orphanet Journal of Rare Diseases 2018 13:112

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  30. Content type: Research

    In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known a...

    Authors: María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos and Rosaura Leis

    Citation: Orphanet Journal of Rare Diseases 2018 13:103

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  31. Content type: Research

    Despite early and ongoing dietary management with a phe-restricted diet, suboptimal neuropsychological function has been observed in PKU. The restrictive nature of the PKU diet may expose patients to sub-optim...

    Authors: Gina A. Montoya Parra, Rani H. Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn and Anita MacDonald

    Citation: Orphanet Journal of Rare Diseases 2018 13:101

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  32. Content type: Research

    Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid treatment.

    Authors: Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, Mireia Del Toro, Maria Alice Donati, Angeles García-Cazorla, María Julieta González, Celine Plisson and Vincenzo Giordano

    Citation: Orphanet Journal of Rare Diseases 2018 13:97

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  33. Content type: Research

    Homozygous familial hypercholesterolaemia (HoFH) is characterized by a markedly increased risk of premature cardiovascular (CV) events and cardiac death. Lomitapide reduces low-density lipoprotein cholesterol ...

    Authors: Dirk J. Blom, Marina Cuchel, Miranda Ager and Helen Phillips

    Citation: Orphanet Journal of Rare Diseases 2018 13:96

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  34. Content type: Review

    5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clini...

    Authors: Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar

    Citation: Orphanet Journal of Rare Diseases 2018 13:29

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  35. Content type: Research

    Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a...

    Authors: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis and Frits A. Wijburg

    Citation: Orphanet Journal of Rare Diseases 2018 13:2

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  36. Content type: Research

    The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective s...

    Authors: Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das and Sabine Illsinger

    Citation: Orphanet Journal of Rare Diseases 2017 12:187

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  37. Content type: Research

    Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule u...

    Authors: Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath and Jan Smeitink

    Citation: Orphanet Journal of Rare Diseases 2017 12:163

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  38. Content type: Review

    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

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  39. Content type: Research

    Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...

    Authors: Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki and Handrean Soran

    Citation: Orphanet Journal of Rare Diseases 2017 12:156

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  40. Content type: Research

    We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation betwe...

    Authors: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas and Mercedes Serrano

    Citation: Orphanet Journal of Rare Diseases 2017 12:155

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  41. Content type: Review

    Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conduc...

    Authors: Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe and Sian Taylor-Phillips

    Citation: Orphanet Journal of Rare Diseases 2017 12:154

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  42. Content type: Research

    Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was la...

    Authors: Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan and Rani H. Singh

    Citation: Orphanet Journal of Rare Diseases 2017 12:132

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  43. Content type: Research

    Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs ra...

    Authors: Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen and I-Chun Lee

    Citation: Orphanet Journal of Rare Diseases 2017 12:115

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  44. Content type: Research

    Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease...

    Authors: Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich and Sven F. Garbade

    Citation: Orphanet Journal of Rare Diseases 2017 12:111

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  45. Content type: Review

    Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...

    Authors: Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2017 12:112

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  46. Content type: Letter to the Editor

    Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...

    Authors: Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro and Kathleen Freson

    Citation: Orphanet Journal of Rare Diseases 2017 12:101

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  47. Content type: Research

    The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosi...

    Authors: Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga…

    Citation: Orphanet Journal of Rare Diseases 2017 12:84

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  48. Content type: Research

    Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic moveme...

    Authors: Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga Harting

    Citation: Orphanet Journal of Rare Diseases 2017 12:77

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