Results 121 to 130 of about 1,211 (133)

Cardiac Markers in Pediatric Laboratory Medicine: Critical Review. [PDF]

Diagnostics (Basel)
Zrinski Topic R, Lenicek Krleza J.
europepmc   +1 more source

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency. [PDF]

J Exp Med
Yang K, Torres-Ramirez G, Dobbs N, Han J, Asahina M, Fujinawa R, Song K, Liu Y, Lin W, Oviedo A, Chen C, Zhu L, Mueller WF, Lee K, Suzuki T, Yan N.   +15 more
europepmc   +1 more source

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Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

European Journal of Medical Genetics, 2020
Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis.
Izabel Maryalexandra, Rios-Flores, Miguel Ángel, Bonal-Pérez, Abril, Castellanos-González, Ezequiel, Velez-Gómez, Aida M, Bertoli-Avella, Lucina, Bobadilla-Morales, Christian, Peña-Padilla, Valentina, Appendini-Andrade, Alfredo, Corona-Rivera, Ivón, Romero-Valenzuela, Jorge Román, Corona-Rivera   +10 more
openaire   +4 more sources

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Molecular Genetics and Metabolism, 2019
NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical marker was available to identify this disease in patients.
Haijes, Hanneke A., de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D. M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.   +12 more
openaire   +6 more sources

Glycoproteomics of N‐glycosylation by in‐gel deglycosylation and matrix‐assisted laser desorption/ionisation‐time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation

PROTEOMICS, 2005
AbstractA general strategy for the structural evaluation of N‐glycosylation, a common post‐translational protein modification, is presented. The methods for the release of N‐linked glycans from the gel‐separated proteins, their isolation, purification and matrix‐assisted laser desorption/ionisation‐mass spectrometry (MALDI‐MS) analysis of their ...
Dijana, Sagi, Petra, Kienz, Jonas, Denecke, Thorsten, Marquardt, Jasna, Peter-Katalinić   +4 more
openaire   +2 more sources

An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.

Advanced therapeutics
There are many neurological rare diseases where animal models have proven inadequate or do not currently exist. NGLY1 Deficiency, a congenital disorder of deglycosylation, is a rare disease that predominantly affects motor control, especially control of neuromuscular action. In this study, NGLY1-deficient, patient-derived induced pluripotent stem cells
Trevor, Sasserath, Ashley L, Robertson, Roxana, Mendez, Tristan T, Hays, Ethan, Smith, Helena, Cooper, Nesar, Akanda, John W, Rumsey, Xiufang, Guo, Atena, Farkhondeh, Manisha, Pradhan, Karsten, Baumgaertel, Matthew, Might, Steven, Rodems, Wei, Zheng, James J, Hickman   +15 more
openaire   +1 more source

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

American Journal of Human Genetics, 2022
Nuno Maia, Shyam K Akula, Céline Schulz
exaly  

The changing epidemiology of congenital heart disease

Nature Reviews Cardiology, 2010
Aeilko H Zwinderman, Berto Bouma
exaly  

Wilms' Tumor and Congenital Aniridia

Ca-A Cancer Journal for Clinicians, 1969
exaly  

Congenital adrenal hyperplasia

Lancet, The, 2005
Deborah P Merke, Stefan R Bornstein
exaly