Works matching Congenital disorders

Results: 5000

16 例儿童先天性纤维蛋白原病的临床表型和基因型分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 8, p. 840, doi. 10.7499/j.issn.1008-8830.2403064

By:

王敏;
陈天平;
江傲霜;
赵颖慧;
朱成琳;
韦楠;
金玉婷;
屈丽君

Publication type:

Article

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

Published in:

Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-7

By:

Schröder, Julia C.;
Läßig, Anne K.;
Galetzka, Danuta;
Peters, Angelika;
Castle, John C.;
Diederich, Stefan;
Zechner, Ulrich;
Müller-Forell, Wibke;
Keilmann, Annerose;
Bartsch, Oliver

Publication type:

Article

Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.

Published in:

Klinická Biochemie a Metabolismus, 2016, v. 24, n. 2, p. 67, doi. 10.61568/kbm.2016.012

By:

Hansíková, H.;
Ondrušková, N.;
Honzík, T.;
Veselá, K.;
Horová, E.;
Švecová, Š.;
Tesařová, M.;
Zeman, J.

Publication type:

Article

Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1019283

By:

Greczan, Milena;
Rokicki, Dariusz;
Wesół-Kucharska, Dorota;
Kaczor, Magdalena;
Rawiak, Agata;
Jezela-Stanek, Aleksandra

Publication type:

Article

Congenital and Genetic Ocular Motility Disorders: Update and Considerations.

Published in:

American Orthoptic Journal, 2015, v. 65, n. 1, p. 58, doi. 10.3368/aoj.65.1.58

By:

Oystreck, Darren

Publication type:

Article

Varied presentations of congenital ocular synkinesis: do they all fit congenital cranial dysinnervation disorder spectrum?

Published in:

Arquivos Brasileiros de Oftalmologia, 2021, v. 84, n. 4, p. 374, doi. 10.5935/0004-2749.20210065

By:

Curi, Ian;
Souza-Dias, Carlos

Publication type:

Article

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Published in:

2021

By:

Bogdańska, Anna;
Lipiński, Patryk;
Szymańska-Rożek, Paulina;
Jezela-Stanek, Aleksandra;
Rokicki, Dariusz;
Socha, Piotr;
Tylki-Szymańska, Anna

Publication type:

journal article

Mosaicism of the UDP-Galactose transporter <italic>SLC35A2</italic> in a female causing a congenital disorder of glycosylation: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0617-6

By:

Westenfield, Kristen;
Sarafoglou, Kyriakie;
Speltz, Laura C.;
Pierpont, Elizabeth I.;
Steyermark, Joan;
Nascene, David;
Bower, Matthew;
Pierpont, Mary Ella

Publication type:

Article

High‐resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.

Published in:

Journal of Separation Science, 2018, v. 41, n. 13, p. 2808, doi. 10.1002/jssc.201800082

By:

Tobler, Micha;
Caslavska, Jitka;
Burda, Patricie;
Thormann, Wolfgang

Publication type:

Article

Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Published in:

Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2

By:

Al-Maawali, Almundher;
Miller, Elka;
Schulze, Andreas;
Yoon, Grace;
Blaser, Susan

Publication type:

Article

Prevalence of coat colour traits and congenital disorders of South American camelids in Austria, Germany and Switzerland.

Published in:

Acta Veterinaria Scandinavica, 2020, v. 62, n. 1, p. N.PAG, doi. 10.1186/s13028-020-00554-y

By:

Jost, Stéphanie Mali;
Knoll, Andrea;
Lühken, Gesine;
Drögemüller, Cord;
Zanolari, Patrik

Publication type:

Article

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.

Published in:

2022

By:

Ceznerová, Eliška;
Kaufmanová, Jiřina;
Sovová, Žofie;
Štikarová, Jana;
Loužil, Jan;
Kotlín, Roman;
Suttnar, Jiří

Publication type:

Case Study

Mirror Movements and Dystonia in SRD5A3‐Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum.

Published in:

Movement Disorders Clinical Practice, 2023, v. 10, n. 3, p. 510, doi. 10.1002/mdc3.13627

By:

Holla, Vikram V.;
Rangarajan, Anush;
Arunachal, Gautham;
Muthusamy, Babylakshmi;
Kamble, Nitish;
Yadav, Ravi;
Pal, Pramod Kumar;
Netravathi, Manjunath

Publication type:

Article

Addressing the impact of SARS‐CoV‐2 infection in persons with congenital bleeding disorders: The Italian MECCOVID‐19 study.

Published in:

Haemophilia, 2021, v. 27, n. 4, p. e575, doi. 10.1111/hae.14331

By:

Coluccia, Antonella;
Marchesini, Emanuela;
Giuffrida, Anna Chiara;
Rivolta, Gianna Franca;
Ricca, Irene;
Zanon, Ezio;
Luciani, Matteo;
De Cristofaro, Raimondo;
Coppola, Antonio;
Rocino, Angiola;
Ambaglio, Chiara;
Borchiellini, Alessandra;
Bonetti, Elisa;
Caimi, Teresa Maria;
Carulli, Christian;
Contino, Laura;
Cultrera, Dorina;
D'Attilio, Eva;
Delios, Grazia;
Feola, Giulio

Publication type:

Article

Low endoscopy bleeding risk in patients with congenital bleeding disorders.

Published in:

Haemophilia, 2019, v. 25, n. 2, p. 289, doi. 10.1111/hae.13691

By:

Tomaszewski, Marcel;
Bienz, Marc;
Kherad, Omar;
Restellini, Sophie;
Laflèche, Tania;
Barkun, Alan;
Warner, Margaret;
Bessissow, Talat

Publication type:

Article

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03557-y

By:

Meng, Linxue;
Fang, Zhixu;
Jiang, Li;
Zheng, Yinglan;
Hong, Siqi;
Deng, Yu;
Xie, Lingling

Publication type:

Article

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.

Published in:

Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359

By:

Tachibana, Nobutaka;
Hosono, Katsuhiro;
Nomura, Shuhei;
Arai, Shinji;
Torii, Kaoruko;
Kurata, Kentaro;
Sato, Miho;
Shimakawa, Shuichi;
Azuma, Noriyuki;
Ogata, Tsutomu;
Wada, Yoshinao;
Okamoto, Nobuhiko;
Saitsu, Hirotomo;
Nishina, Sachiko;
Hotta, Yoshihiro

Publication type:

Article

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Published in:

Genes, 2021, v. 12, n. 8, p. 1227, doi. 10.3390/genes12081227

By:

Silver, Grace;
Bahl, Shalini;
Cordeiro, Dawn;
Thakral, Abhinav;
Athey, Taryn;
Mercimek-Andrews, Saadet

Publication type:

Article

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.

Published in:

Genes, 2020, v. 11, n. 6, p. 697, doi. 10.3390/genes11060697

By:

Doroftei, Bogdan;
Nemtanu, Loredana;
Ilie, Ovidiu-Dumitru;
Simionescu, Gabriela;
Ivanov, Iuliu;
Anton, Emil;
Puiu, Maria;
Maftei, Radu

Publication type:

Article

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.

Published in:

Molecular Brain, 2013, v. 6, n. 1, p. 2, doi. 10.1186/1756-6606-6-52

By:

Liangwu Sun;
Yingjun Zhao;
Kun Zhou;
Freeze, Hudson H.;
Yun-wu Zhang;
Huaxi Xu

Publication type:

Article

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation.

Published in:

2025

By:

Thakkar, Esha;
Iasiello, John A.;
Cai, Sunny R.;
Hutton, Adrienne

Publication type:

Case Study

Allogeneic hematopoietic stem cell transplantation in congenital disorders: A single-center experience.

Published in:

Pediatric Transplantation, 2017, v. 21, n. 6, p. n/a, doi. 10.1111/petr.12997

By:

Faraci, Maura;
Giardino, Stefano;
Bagnasco, Francesca;
Morreale, Giuseppe;
Terranova, M. Paola;
Di Martino, Daniela;
Lanino, Edoardo

Publication type:

Article

Congenital Disorders of Glycosylation from a Neurological Perspective.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 88, doi. 10.3390/brainsci11010088

By:

Paprocka, Justyna;
Jezela-Stanek, Aleksandra;
Tylki-Szymańska, Anna;
Grunewald, Stephanie

Publication type:

Article

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1350101

By:

Pascoal, Carlota;
Francisco, Rita;
Mexia, Patrícia;
Luís Pereira, Beatriz;
Granjo, Pedro;
Coelho, Helena;
Barbosa, Mariana;
dos Reis Ferreira, Vanessa;
Alexandra Videira, Paula

Publication type:

Article

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

Published in:

Case Reports in Ophthalmology, 2018, v. 9, n. 1, p. 102, doi. 10.1159/000485832

By:

Sedarous, Fady;
Chan, Toby Y.B.;
Makar, Inas

Publication type:

Article

Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.

Published in:

Bratislava Medical Journal / Bratislavské Lekárske Listy, 2021, v. 122, n. 3, p. 190, doi. 10.4149/BLL_2021_030

By:

Lekka, D. E.;
Brucknerova, J.;
Salingova, A.;
Sebova, C.;
Ostrozlikova, M.;
Ziburova, J.;
Nemcovic, M.;
Sestak, S.;
Bellova, J.;
Pakanova, Z.;
Sivakova, B.;
Skoknova, M.;
Bzduch, V.;
Mucha, J.;
Barath, P.;
Brucknerova, I.

Publication type:

Article

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508

By:

Medrano, Celia;
Vega, Ana;
Navarrete, Rosa;
Ecay, M. Jesús;
Calvo, Rocío;
Pascual, Samuel Ignacio;
Ruiz‐Pons, Mónica;
Toledo, Laura;
García‐Jiménez, Inmaculada;
Arroyo, Ignacio;
Campo, Andrea;
Couce, M. Luz;
Domingo‐Jiménez, M. Rosario;
García‐Silva, M. Teresa;
González‐Gutiérrez‐Solana, Luis;
Hierro, Loreto;
Martín‐Hernández, Elena;
Martínez‐Pardo, Mercedes;
Roldán, Susana;
Tomás, Miguel

Publication type:

Article

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 455, doi. 10.1111/cge.12417

By:

Kodera, H.;
Ando, N.;
Yuasa, I.;
Wada, Y.;
Tsurusaki, Y.;
Nakashima, M.;
Miyake, N.;
Saitoh, S.;
Matsumoto, N.;
Saitsu, H.

Publication type:

Article

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).

Published in:

2022

By:

Francisco, Rita;
Brasil, Sandra;
Pascoal, Carlota;
Jaeken, Jaak;
Liddle, Merell;
Videira, Paula A.;
dos Reis Ferreira, Vanessa

Publication type:

journal article

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01067-1

By:

Ge, Haixia;
Wu, Qingbin;
Lu, Huigang;
Huang, Yong;
Zhou, Tingting;
Tan, Danlin;
ZhongqinJin

Publication type:

Article

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.955732

By:

Jun Wang;
Xingqing Gou;
Xiyi Wang;
Jing Zhang;
Nan Zhao;
Xiaohong Wang

Publication type:

Article

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

Published in:

BMC Research Notes, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13104-023-06314-1

By:

Sabry, Sahar;
Eissa, Noura R.;
Zaki, Maha S.

Publication type:

Article

Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 114, doi. 10.24953/turkjped.2020.01.016

By:

Kılıç, Betül;
Akkuş, Nejmiye

Publication type:

Article

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Published in:

2024

By:

Fan, Shiqi;
Wu, Huanhuan;
Wang, Rongrong;
Chen, Qian;
Zhang, Xue

Publication type:

Case Study

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2197

By:

Xue, Yan;
Zhao, Yiran;
Wu, Bo;
Shu, Jianbo;
Yan, Dandan;
Li, Dong;
Yu, Xiaoli;
Cai, Chunquan

Publication type:

Article

Treatment Options in Congenital Disorders of Glycosylation.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.735348

By:

Park, Julien H.;
Marquardt, Thorsten

Publication type:

Article

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.719437

By:

Pajusalu, Sander;
Vals, Mari-Anne;
Mihkla, Laura;
Šamarina, Ustina;
Kahre, Tiina;
Õunap, Katrin

Publication type:

Article

Congenital Cranial Dysinnervation Disorders: A Literature Review.

Published in:

American Orthoptic Journal, 2017, v. 67, n. 1, p. 89, doi. 10.1080/0065955X.2017.12023638

By:

Fels, Rebecca

Publication type:

Article

Hyperkinetic movement disorders in congenital disorders of glycosylation.

Published in:

European Journal of Neurology, 2019, v. 26, n. 9, p. 1226, doi. 10.1111/ene.14007

By:

Mostile, G.;
Barone, R.;
Nicoletti, A.;
Rizzo, R.;
Martinelli, D.;
Sturiale, L.;
Fiumara, A.;
Jankovic, J.;
Zappia, M.

Publication type:

Article

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG).

Published in:

Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 24, doi. 10.1515/tjb-2024-0011

By:

Ozgen, Ozge;
Güdek Kılıç, Fatma;
Gedikbaşı, Asuman;
Balcı, Mehmet Cihan;
Karaca, Meryem;
Durmuş, Aslı;
Tutu, Belkıs;
Körbeyli, Hüseyin Kutay;
Atalar, Fatmahan;
Gökçay, Gülden Fatma

Publication type:

Article

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Published in:

Jornal de Pediatria, 2020, v. 96, n. 6, p. 710, doi. 10.1016/j.jped.2019.05.008

By:

Scholz de Magalhães, Ana Paula Pereira;
Burin, Maira Graeff;
Moura de Souza, Carolina Fischinger;
Hendges de Bitencourt, Fernanda;
Medeiros Sebastião, Fernanda;
Oliveira Silva, Thiago;
Pinto e Vairo, Filippo;
Doederlein Schwartz, Ida Vanessa

Publication type:

Article

DENTAL MANAGEMENT OF PATIENTS WITH ACQUIRED AND CONGENITAL BLEEDING DISORDERS.

Published in:

Primary Dental Journal, 2020, v. 9, n. 2, p. 47, doi. 10.1177/2050168420923866

By:

MOOSAJEE, SUKINA;
RAFIQUE, SOBIA

Publication type:

Article

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.

Published in:

2017

By:

de Freitas, Cláudia;
dos Reis, Vanessa;
Silva, Susana;
Videira, Paula A.;
Morava, Eva;
Jaeken, Jaak

Publication type:

journal article

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2092, doi. 10.3390/jcm9072092

By:

Francisco, Rita;
Pascoal, Carlota;
Marques-da-Silva, Dorinda;
Brasil, Sandra;
Pimentel-Santos, Fernando M.;
Altassan, Ruqaiah;
Jaeken, Jaak;
Grosso, Ana Rita;
dos Reis Ferreira, Vanessa;
Videira, Paula A.

Publication type:

Article

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1402883

By:

Wenqiang Sun;
Xinyun Jin;
Xueping Zhu

Publication type:

Article

Ties That Blind: A Longitudinal Study on Consanguinity and Congenital Disorders in Kabirwala, Pakistan.

Published in:

Qualitative Report, 2023, v. 28, n. 11, p. 3169, doi. 10.46743/2160-3715/2023.6120

By:

Irfan, Hifza;
Sharif, Abida;
Sabir, Imran;
Watto, Saeed Ahmad;
Zaman, Muhammad

Publication type:

Article

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438

By:

Lipiński, Patryk;
Stępień, Karolina M.;
Ciara, Elżbieta;
Tylki-Szymańska, Anna;
Jezela-Stanek, Aleksandra

Publication type:

Article

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 262, doi. 10.3390/diagnostics11020262

By:

Esposito, Maria Valeria;
Comegna, Marika;
Cernera, Gustavo;
Gelzo, Monica;
Paparo, Lorella;
Berni Canani, Roberto;
Castaldo, Giuseppe;
Tanaka, Takuji

Publication type:

Article

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03043-x

By:

Poejo, Joana;
Gomes, Ana Isabel;
Granjo, Pedro;
dos Reis Ferreira, Vanessa

Publication type:

Article

Congenital disorders of glycosylation (CDG): state of the art in 2022.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02879-z

By:

Francisco, Rita;
Brasil, Sandra;
Poejo, Joana;
Jaeken, Jaak;
Pascoal, Carlota;
Videira, Paula A.;
dos Reis Ferreira, Vanessa

Publication type:

Article