Articles

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as...

Authors: Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil…

Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet’s Aortoiliac aneurysms

This study was conducted to evaluate our local experiences of adjunctive mechanical prosthetic wrapping for aortoiliac vascular anastomoses as a prophylactic measure following surgical repair of Behçet’s aorto...

Authors: Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar and Mai A. Elkalla

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment a...

Authors: Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann and Stefan Kölker

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to asses...

Authors: Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz and Verónica Alonso-Ferreira

Characteristics of Pompe disease in China: a report from the Pompe registry

Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...

Authors: Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei and Chuanzhu Yan

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study

Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, bu...

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

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Discussions continue as to whether ventricular septal defects are best categorized according to their right ventricular geography or their borders. This is especially true when considering the perimembranous d...

Authors: Justin T. Tretter, Vi-Hue Tran, Seth Gray, Hieu Ta, Rohit S. Loomba, William O’Connor, Diane E. Spicer, Andrew C. Cook and Robert H. Anderson

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

Authors: Erik Landfeldt, Hanns Lochmüller and Peter Lindgren

“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to mainta...

Authors: Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian and Michelle A. Farrar

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental di...

Authors: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho and Dau-Ming Niu

Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomat...

Authors: Anthony M. Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H. Louis, Shikshya Shrestha, Benjamin Stump, Hilary J. Goldberg, Elizabeth A. Thiele, Ivan Rosas, Elizabeth P. Henske and Souheil El-Chemaly

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

To evaluate whether immunomodulation can eliminate high sustained antibody levels, and thereby improve clinical outcome in classic infantile Pompe patients receiving enzyme replacement therapy (ERT) with recom...

Authors: E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel and A. T. van der Ploeg

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative compa...

Authors: Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little…

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Rare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases. Probabilistic diagnostic decision support systems (DDSSs) have th...

Authors: Simon Ronicke, Martin C. Hirsch, Ewelina Türk, Katharina Larionov, Daphne Tientcheu and Annette D. Wagner

The Korean undiagnosed diseases program: lessons from a one-year pilot project

The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this...

Authors: Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee…

Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency

Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Human fetuin-A is a multifunctional glyc...

Authors: Bernadett Márkus, Nóra Veszeli, György Temesszentandrási, Henriette Farkas and László Kalabay

Betaine anhydrous in homocystinuria: results from the RoCH registry

The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety...

Authors: Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet…

Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate

Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell l...

Authors: Konrad Bork, Petra Staubach-Renz and Jochen Hardt

Microscopic versus endoscopic transsphenoidal surgery in the Leiden cohort treated for Cushing’s disease: surgical outcome, mortality, and complications

First-choice treatment for Cushing’s disease is transsphenoidal adenomectomy. Since its introduction in the 1970s, many centers have now switched from microscopic to endoscopic surgery. We compared both techni...

Authors: Leonie H. A. Broersen, Femke M. van Haalen, Nienke R. Biermasz, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Olaf M. Dekkers and Alberto M. Pereira

Analysis of LPI-causing mutations on y+LAT1 function and localization

y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the ...

Authors: Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici and Valeria Dall’Asta

Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangemen...

Authors: Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton and Andrea Vianello

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytop...

Authors: Jessica Galli, Lorenzo Pinelli, Serena Micheletti, Giovanni Palumbo, Lucia Dora Notarangelo, Vassilios Lougaris, Laura Dotta, Elisa Fazzi and Raffaele Badolato

Web-based personalised information and support for patients with a neuroendocrine tumour: randomised controlled trial

Patients with a neuroendocrine tumour (NET) frequently have physical and psychosocial complaints. Aim of this study is to determine whether a web-based, personalised information and support system (WINS) reduc...

Authors: L. D. de Hosson, G. Bouma, J. Stelwagen, H. van Essen, G. H. de Bock, D. J. A. de Groot, E. G. E. de Vries and A. M. E. Walenkamp

Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness

Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a 5-year-old boy with Worster Drought Syndrome, I became inadvertently caught in the trap of focusing...

Authors: Logan Zane John Williams

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when ca...

Authors: María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer and Encarna Guillén-Navarro

FGF23 and its role in X-linked hypophosphatemia-related morbidity

X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic e...

Authors: Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala and Outi Mäkitie

Congenital myasthenic syndromes

Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. Since the field of CMS...

Authors: Josef Finsterer

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet f...

Authors: Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer and Matthias Gautschi

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (int...

Authors: Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska and Anna Tylki-Szymańska

Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1

Patients with multiple endocrine neoplasia type 1 (MEN-1) develop multiple pancreatic neuroendocrine neoplasias (PNENs). Size at diagnosis and growth during follow-up are crucial parameters. According to the W...

Authors: Andreas Selberherr, Oskar Koperek, Philipp Riss, Christian Scheuba, Martin B. Niederle, Reto Kaderli, Aurel Perren and Bruno Niederle

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese childre...

Authors: Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams and Bernadette R. Gochuico

Guidelines on the diagnosis and management of the progressive ataxias

The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the ...

Authors: Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt and Paola Giunti

Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study

Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. HLH manifesting during pregnancy has been paid much attention in recent years. Despite the specificity of pregnancy-related HLH, the...

Authors: Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen and Bo Chen

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011–2015

The burden of rare diseases on society and patients’ families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases a...

Authors: Sung-Shil Lim, Wanhyung Lee, Yeong-Kwang Kim, Jihyun Kim, Jong Heon Park, Bo Ram Park and Jin-Ha Yoon

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States

Severe mucopolysaccharidosis type I (also known as Hurler syndrome) is a rare devasting recessive genetic disease caused by the deficiency of an enzyme. Hematopoietic stem cell transplant is the standard of ca...

Authors: Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati and Vanessa Rangel-Miller

Patient access to orphan drugs in France

Since incentives were introduced to promote orphan drugs in Europe, several dozens of drugs have been registered at the European level. However, patient access on a national level remains very heterogeneous ac...

Authors: Marion Bourdoncle, Blandine Juillard-Condat and Florence Taboulet

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without ...

Authors: Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols and Maria L. Escolar

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar fea...

Authors: Hui Tang, Jing Guo, Siyuan Linpeng and Lingqian Wu

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

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

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD ...

Authors: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong and Yun Yuan

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance

Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in ...

Authors: Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert and Marie Christine Vantyghem

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for i...

Authors: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar and Miriam Schmidts

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

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

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis

The treatment of tuberous sclerosis complex (TSC) using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to evaluate the efficacy and safety of mTOR inh...

Authors: Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu and Yimin Cui

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder most...

Authors: Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel and Bernt Popp

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

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

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

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

Primary pulmonary lymphoma in children

Primary pulmonary lymphoma (PPL) is a rare disease, especially in children. We analyse the clinical features of PPL in 4 children to strengthen a understanding of it.

Authors: Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu and Shunying Zhao

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases were...

Authors: Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet and Leslie Amass

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

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