Articles

Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5) by investigating the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI...

Authors: Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin and Ying Fu

Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia

Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatmen...

Authors: K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings and M. E. Faughnan

Norm-based comparison of the quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening intravascular hematologic disorder with significant morbidity and premature mortality. Clinical trials (NCT02946463 and NCT03056040) com...

Authors: Carolyn E. Schwartz, Roland B. Stark, Katrina Borowiec, Sandra Nolte and Karl-Johan Myren

Cholbam® and Zellweger spectrum disorders: treatment implementation and management

Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective pe...

Authors: Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes and Sirish Palle

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine can d...

Authors: Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms and Thorsten Marquardt

PACS1-Neurodevelopmental disorder: clinical features and trial readiness

PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopme...

Authors: Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli and Anne T. Berg

Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders o...

Authors: Mei Yao, Yu Xia, Yijie Feng, Ying Ma, Yi Hong, Yanyi Zhang, Jie Chen, Changzheng Yuan and Shanshan Mao

Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender

Previous research has supported the utility of the Double ABCX model of family adaptation for parents in various diseases. Nonetheless, it remains unclear how raising a child with rare congenital surgical dise...

Authors: Johannes Boettcher, Holger Zapf, Mareike Fuerboeter, Rojin Nazarian, Konrad Reinshagen, Silke Wiegand-Grefe and Michael Boettcher

Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has ...

Authors: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai and Ying Wang

Functional results after carpal tunnel release in mucopolysaccharidosis

Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycos...

Authors: Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio Neto and Flavia David João de Masi Nassif

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with ...

Authors: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci…

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep disturbances. Often, patients with SMS are diagnosed with at...

Authors: A. R. Müller, J. R. Zinkstok, N. N. J. Rommelse, P. M. van de Ven, K. C. B. Roes, F. A. Wijburg, E. de Rooij-Askes, C. Linders, E. Boot and A. M. van Eeghen

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Aff...

Authors: Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi and Orna Staretz-Chacham

Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy

Coronavirus Disease 2019 (COVID-19) continues to have a devastating impact across the world. A number of pre-existing common clinical conditions were reported to represent risk factors for more severe COVID-19...

Authors: Patrizia Suppressa, Fabio Pagella, Gennaro Mariano Lenato, Eleonora Gaetani, Ilaria Serio, Maristella Salvatora Masala, Giuseppe Spinozzi, Roberta Lizzio, Elina Matti, Annalisa De Silvestri, Giulio Cesare Passali, Maria Aguglia, Claudia Crocione and Carlo Sabbà

Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study

Epidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in t...

Authors: Nicholas H. B. Schräder, Emily S. Gorell, Roy E. Stewart, José C. Duipmans, Nicole Harris, Victoria A. Perez, Jean Y. Tang, André P. Wolff and Marieke C. Bolling

The de novo FAIRification process of a registry for vascular anomalies

Patient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, w...

Authors: Karlijn H. J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna dos Santos Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A. C. ‘t Hoen, Ronald Cornet, Marco Roos and Leo Schultze Kool

Growth patterns in children with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) ...

Authors: Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell…

The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare dis...

Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo…

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a group of genodermatoses in which deficient ectodysplasin A signalling leads to maldevelopment of skin appendages, various eccrine glands, and teeth. Individuals wit...

Authors: Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck and Holm Schneider

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations

Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory proteins are secreted into the bloodstream and may serve ...

Authors: Sarah E. Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Mark D. Starr, Yingmiao Liu, Helen Kim, Marie E. Faughnan, Andrew B. Nixon and Douglas A. Marchuk

Impact of glycogen storage disease type I on adult daily life: a survey

Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprise...

Authors: Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sarah C. Grünert

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chines...

Authors: Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie and Xueyan Wu

Patients with neuromyelitis optica spectrum disorder (NMOSD) are associated with adverse outcome after total hip arthroplasty: a matched case–control study

Neuromyelitis Optica Spectrum Disorders (NMOSD) are rare inflammatory diseases of the central nervous system that cause transverse myelitis and optic neuritis. Steroids are commonly administered in NMOSD patie...

Authors: Xi Chen, Wenwei Qian, Guixing Qiu, Xisheng Weng, Jin Lin, Jin Jin, Shibai Zhu, Yiou Wang and Shanni Li

Clinical features of gastric duplications: evidence from primary case reports and published data

Alimentary tract duplications are rare congenital lesions, and only 2–8% of them are located in the stomach. Gastric duplications (GD) can lead to severe adverse events. Thus, surgical resection is required on...

Authors: Yang Li, Chen Li, Hao Wu, Quan Wang, Zhi-Dong Gao, Xiao-Dong Yang, Ke-Wei Jiang and Ying-Jiang Ye

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe...

Authors: Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann and Martina Huemer

A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex

Authors: Abigail K. Runicles, Charlotte Tye and Patrick F. Bolton

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for di...

Authors: Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh and Nara Sobreira

Quality of life of transplanted children and their parents: a cross-sectional study

Transplantation is a saving therapeutic that has heavy consequences. The quality of life (QoL) of transplanted children and their parents has been little studied and should help physicians better manage these ...

Authors: Pauline Duvant, Magali Fillat, Florentine Garaix, Bertrand Roquelaure, Caroline Ovaert, Virginie Fouilloux, Michel Tsimaratos, Pascal Auquier, Alexandre Fabre and Karine Baumstarck

Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers

The genomic landscape of phyllodes tumors (PTs) of the breast is not well defined, especially in patients with advanced disease. To shed light on this topic, paired primary and progressed tumor samples from tw...

Authors: Mattea Reinisch, Sherko Kuemmel, Elisabeth Breit, Ingo Theuerkauf, Hakima Harrach, Dorothea Schindowski, Detlef Moka, Marcus Bettstetter, Simona Bruzas and Ouafaa Chiari

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe p...

Authors: Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli and Francesca Bisulli

Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics

The threat and experience of pandemics occur differently for different groups. The rare disease population is at particular risk of being further marginalised during pandemics. In this study, our objective was...

Authors: Claudia Ching Yan Chung, Wilfred Hing Sang Wong and Brian Hon Yin Chung

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasi...

Authors: Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini and Acary Souza Bulle Oliveira

Mannose supplementation in PMM2-CDG

In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Ou...

Authors: Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

The diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study described the health care service utilization through participants’ perspective and estimated t...

Authors: Xinye Qi, Jiao Xu, Linghan Shan, Ye Li, Yu Cui, Huan Liu, Kexin Wang, Lijun Gao, Zheng Kang and Qunhong Wu

The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital

Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile skin, organ/systems dysfu...

Authors: Nimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, P. Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey, Joel Katz, Lianne McLean, Dmitry Rozenberg, Louis Liu, Yvonne Tse, Colleen Parker…

A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch model

Rare disease patient-reported outcome measures (PROMs) require linguistic adaptation to overcome the challenge of geographically dispersed patient populations. Importantly, PROMs such as health-related quality...

Authors: Agnes Kocher, Mwidimi Ndosi, Kris Denhaerynck, Michael Simon, Andrew A. Dwyer, Oliver Distler, Kirsten Hoeper, Patrizia Künzler-Heule, Anthony C. Redmond, Peter M. Villiger, Ulrich A. Walker and Dunja Nicca

Clinical course of neurogenic bladder dysfunction in human T-cell leukemia virus type-1-associated myelopathy/tropical spastic paraparesis: a nationwide registry study in Japan

Most patients with human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) develop neurogenic bladder dysfunction. However, longitudinal changes and treatment effects re...

Authors: Naoki Iijima, Junji Yamauchi, Naoko Yagishita, Natsumi Araya, Satoko Aratani, Kenichiro Tanabe, Tomoo Sato, Ayako Takata and Yoshihisa Yamano

Osteomyelitis variolosa, an issue inherited from the past: case report and systematic review

Osteomyelitis variolosa is a self-limiting disease triggered by variola virus that cannot be prevented or repaired. Smallpox has been eradicated for 40 years, and complications that remain after smallpox has b...

Authors: Jinshuo Tang, Pu Shao, Te Liu, Xinggui Wen, Yeliang Wang, Chenyu Wang, Yachen Peng, Hua Yao and Jianlin Zuo

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and tr...

Authors: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel and Antonio Federico

Health care transition for patients with vascular malformations: a French multicenter cross-sectional study

Health care transition (i.e., transition from pediatric to adult care) is challenging in chronic conditions but has been poorly studied in rare chronic skin diseases. We investigated the proportion of lost to ...

Authors: Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stéphanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani and Sophie Leducq

A qualitative study of the impacts of having an infant or young child with achondroplasia on parent well-being

Currently, there is limited research on how having a child diagnosed with achondroplasia affects parents’ lives. The purpose of the study was to investigate the experiences of parents of infants and young chil...

Authors: Kathryn M. Pfeiffer, Meryl Brod, Alden Smith, Dorthe Viuff, Sho Ota and R. Will Charlton

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

Fibrodysplasia ossificans progressiva (FOP), an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification, is characterized by episodic and painful flare-ups and irreversible he...

Authors: Robert J. Pignolo, Edward C. Hsiao, Genevieve Baujat, David Lapidus, Adam Sherman and Frederick S. Kaplan

Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

Sensorineural hearing loss in beta-thalassemia is common and it is generally associated with iron chelation therapy. However, data are scarce, especially on adult populations, and a possible involvement of the...

Authors: Renzo Manara, Sara Ponticorvo, Silverio Perrotta, Maria Rosaria Barillari, Giuseppe Costa, Davide Brotto, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Pasquale Alessandro Carafa, Antonietta Canna, Andrea Gerardo Russo, Donato Troisi, Martina Caiazza, Federica Ammendola, Domenico Roberti…

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-...

Authors: Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, Chia-Chen Chang, Wei-Sheng Lin, Hsiu-Lien Cheng, Shang-Liang Wu, Yen-Fu Cheng and Dau-Ming Niu

Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patients

Interleukin-10 (IL-10) is an independent factor for predicting adverse outcomes in pediatric patients with hemophagocytic lymphohistiocytosis (HLH). However, little is known about its prognostic value in adult...

Authors: Yulan Zhou, Fancong Kong, Shixuan Wang, Min Yu, Yawen Xu, Jing Kang, Songtao Tu and Fei Li

Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework

Acute hepatic porphyria (AHP) is a rare, debilitating disease characterized by potentially life-threatening attacks often resulting in chronic symptoms that negatively impact daily functioning and quality of l...

Authors: Mark P. Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, Julien Patris and David Cassiman

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of...

Authors: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach…

Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation

Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and t...

Authors: Dian Hong, Ying-Yi Zheng, Ying Xin, Ling Sun, Hang Yang, Min-Yin Lin, Cong Liu, Bo-Ning Li, Zhi-Wei Zhang, Jian Zhuang, Ming-Yang Qian and Shu-Shui Wang

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (N...

Authors: Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng and Dongmei Chen

Growth hormone treatment for adults with Prader-Willi syndrome: another point of view

Growth hormone treatment for children with Prader Willi syndrome (PWS) has shown proven benefits not only in increasing final height but also with positive effects on body composition and motor development. In...

Authors: Harry J. Hirsch and Varda Gross-Tsur