Articles

The neuropsychological phenotype of Chediak-Higashi disease

Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstru...

Authors: Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro and Wendy J. Introne

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of...

Authors: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi…

Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Late and misdiagnoses of rare disease patients are common and often result in medical, physical and mental burden for the patient, and financial and emotional burden for the patient’s family. Low rare disease ...

Authors: Liese Vandeborne, Eline van Overbeeke, Marc Dooms, Birgit De Beleyr and Isabelle Huys

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...

Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding...

Authors: Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova and Anna Shcherbina

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been us...

Authors: Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager…

Comparing access to orphan medicinal products in Europe

The primary objective of this study was to compare the availability and access of orphan medicinal products (OMPs) in the devolved nations in the United Kingdom (UK), France, Germany, Italy and Spain. Availabi...

Authors: Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz and Martina Garau

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea...

Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. ...

Authors: Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker and Sandra R. Breyer

Inherited ichthyoses: molecular causes of the disease in Czech patients

Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatol...

Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová and Lenka Fajkusová

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor forma...

Authors: Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra and Vicente Villanueva

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome

Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with ...

Authors: Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman and Michael T. Collins

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature ...

Authors: Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh and Hongbo Yang

Demography of vascular Behcet’s disease with different gender and age: an investigation with 166 Chinese patients

The Clinical features of vascular Behcet’s disease (BD) are not well understood because there are few studies. Our study aimed to investigate characteristics of vascular BD in both genders in different age gro...

Authors: Yong Chen, Jian-Fei Cai, Chen-Hong Lin and Jian-Long Guan

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor...

Authors: F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri and S. Zeinali

The natural history of classic galactosemia: lessons from the GalNet registry

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…

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understandi...

Authors: Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov and Gabriel Ángel Martos-Moreno

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caus...

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

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

Hereditary spastic paraplegias (HSP) are of great clinical and genetic heterogeneity. According to the clinical features, HSP can be divided into pure or complicated subtypes which combined with other neurolog...

Authors: Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang and Jian-Jun Wu

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