Cargando…

ALG8-CDG: novel patients and review of the literature

BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Höck, Michaela, Wegleiter, Karina, Ralser, Elisabeth, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Fauth, Christine, Steichen, Elisabeth, Pichler, Karin, Lefeber, Dirk J., Matthjis, Gert, Keldermans, Liesbeth, Maurer, Kathrin, Zschocke, Johannes, Karall, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351/ https://www.ncbi.nlm.nih.gov/pubmed/26066342 http://dx.doi.org/10.1186/s13023-015-0289-7

Ejemplares similares

Dietary treatment of congenital chylothorax with skimmed breast milk
por: Höck, Michaela, et al.
Publicado: (2021)

ALG11-CDG: Three novel mutations and further characterization of the phenotype
por: Regal, L., et al.
Publicado: (2014)

Clinical and Molecular Characterization of ALG1-CDG
por: Dhamija, Radhika, et al.
Publicado: (2016)

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
por: Al-Owain, Mohammed, et al.
Publicado: (2010)

Readmission of Preterm Infants Less Than 32 Weeks Gestation Into Early Childhood: Does Gender Difference Still Play a Role?
por: Elisabeth, Ralser, et al.
Publicado: (2014)

Connatal Urinary Ascites in a Female Preterm
por: Brunner, Barbara, et al.
Publicado: (2017)

ALG9-CDG: New clinical case and review of the literature
por: Davis, Kellie, et al.
Publicado: (2017)

COG6‐CDG: Novel variants and novel malformation
por: Cirnigliaro, Lara, et al.
Publicado: (2022)

COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2012)

SLC35A2-CDG: Novel variant and review
por: Quelhas, Dulce, et al.
Publicado: (2021)

CDG – an update
por: Morava, Eva, et al.
Publicado: (2011)

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
por: Mitusińska, Karolina, et al.
Publicado: (2022)

Correction: COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2013)

The effect of levomepromazine on the healthy and injured developing mouse brain – An in vitro and in vivo study
por: Posod, Anna, et al.
Publicado: (2020)

SLC37A4‐CDG: Second patient
por: Wilson, Matthew P., et al.
Publicado: (2021)

Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome
por: Brunner, Juergen, et al.
Publicado: (2014)

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
por: Pichler, Karin, et al.
Publicado: (2016)

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
por: Murali, Chaya, et al.
Publicado: (2014)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
por: Farolfi, Martina, et al.
Publicado: (2021)

A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy
por: Clark, Daniel James, et al.
Publicado: (2023)

Short-, Mid-, and Long-Term Effect of Granulocyte Colony-Stimulating Factor/Stem Cell Factor and Fms-Related Tyrosine Kinase 3 Ligand Evaluated in an In Vivo Model of Hypoxic-Hyperoxic Ischemic Neonatal Brain Injury
por: Posod, Anna, et al.
Publicado: (2019)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
por: de la Morena‐Barrio, María Eugenia, et al.
Publicado: (2020)

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
por: Wilson, Matthew P, et al.
Publicado: (2022)

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
por: González-Domínguez, Carlos Alberto, et al.
Publicado: (2021)

Long-Term Consequences of Fetal Angiotensin II Receptor Antagonist Exposure
por: Wegleiter, K., et al.
Publicado: (2018)

The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
por: Paprocka, Justyna, et al.
Publicado: (2021)

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
por: González-Domínguez, Carlos Alberto, et al.
Publicado: (2021)

Bilanz ziehen – Zahlen, Daten, Fakten
por: Karall, Daniela, et al.
Publicado: (2020)

Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)
por: Brunnner, J, et al.
Publicado: (2015)

How to find and diagnose a CDG due to defective N-glycosylation
por: Lefeber, Dirk J., et al.
Publicado: (2011)

Plasma homocysteine levels and associated factors in community-dwelling adolescents: the EVA-TYROL study
por: Gande, Nina, et al.
Publicado: (2023)

Less invasive surfactant administration is associated with a higher need for nonpharmacological pain‐relieving interventions compared to the intubation‐surfactant extubation technique in preterm infants
por: Höck, Michaela, et al.
Publicado: (2020)

ATP6AP1‐CDG: Follow‐up and female phenotype
por: Lipiński, Patryk, et al.
Publicado: (2020)

The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases
por: Beck, Nikolas, et al.
Publicado: (2021)

Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy
por: Renaud, David, et al.
Publicado: (2023)

Case report of a central venous access device-associated thrombosis with aortic embolism in a preterm infant
por: Biermayr, Marlene, et al.
Publicado: (2016)

The various clinical spectra of juvenile xanthogranuloma: imaging for two case reports and review of the literature
por: Höck, Michaela, et al.
Publicado: (2019)

Prophylactic Low-Dose Paracetamol Administration for Ductal Closure and Amplitude-Integrated Electroencephalography in Preterm Infants
por: Schreiner, Christina, et al.
Publicado: (2022)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
por: Cossins, Judith, et al.
Publicado: (2013)

Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism
por: Wohlfarter, Yvonne, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_3ktp6or8u90j796c5i53ckvqnj