Cargando…

Editorial

Mostrar otras versiones (1)

Detalles Bibliográficos
Autor principal:	Jezela-Stanek, Aleksandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2022
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444196/ https://www.ncbi.nlm.nih.gov/pubmed/36047172 http://dx.doi.org/10.34763/jmotherandchild.20212504.edit.2021_25_04

Ejemplares similares

Editorial
por: Jezela-Stanek, Aleksandra
Publicado: (2021)

Dear Readers and Authors
por: Jezela-Stanek, Aleksandra
Publicado: (2021)

Editorial: Inherited Protein Glycosylation Defects in Humans
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022)

Interstitial Lung Disease in Rare Congenital Syndromes
por: Jezela-Stanek, Aleksandra
Publicado: (2020)

SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2023)

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review
por: Kosinski, Przemyslaw, et al.
Publicado: (2021)

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
por: Hutny, Michal, et al.
Publicado: (2023)

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series
por: Stepien, Karolina M., et al.
Publicado: (2020)

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2020)

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
por: Wesół-Kucharska, Dorota, et al.
Publicado: (2021)

Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review
por: Kosinski, Przemyslaw, et al.
Publicado: (2020)

Congenital Disorders of Glycosylation from a Neurological Perspective
por: Paprocka, Justyna, et al.
Publicado: (2021)

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2021)

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein
por: Lechowicz, Urszula, et al.
Publicado: (2020)

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
por: Lipiński, Patryk, et al.
Publicado: (2021)

Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis
por: Greczan, Milena, et al.
Publicado: (2022)

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2020)

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)

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2019)

Editorial: Biomedical Data in Human–Machine Interaction
por: Kawala-Sterniuk, Aleksandra, et al.
Publicado: (2023)

The genetic basis of classical galactosaemia in Polish patients
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2021)

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
por: Bogdańska, Anna, et al.
Publicado: (2021)

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2020)

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
por: Paprocka, Justyna, et al.
Publicado: (2022)

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022)

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
por: Jezela‐Stanek, Aleksandra, et al.
Publicado: (2020)

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

Editorial
por: Neuchrist, Csilla
Publicado: (2022)

Editorial
por: Likar, Rudolf
Publicado: (2022)

Editorial
por: Hoda, M. N.
Publicado: (2022)

Editorial
por: Kumar, V. Anand
Publicado: (2022)

Editorial
por: Wu, Menghuai, et al.
Publicado: (2022)

Editorial
por: Facharztmagazine, Redaktion
Publicado: (2022)

Editorial
por: Eyre-Walker, Adam, et al.
Publicado: (2022)

Editorial
por: Czech, Marcin
Publicado: (2022)

Éditorial
por: Fried, Michael
Publicado: (2022)

Editorial
por: Kienast, V.
Publicado: (2022)

Editorial
por: Utzerath, Julia
Publicado: (2022)

Editorial
Publicado: (2022)

Editorial
por: Field, Richard
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_73k75ldfah086h4lsmd6437tls