Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders

Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare congenital disorders of glycosylation with multisystemic involvement. The underlying cause is an abnormal structure of glycosylphosphatidylinositol, which plays a significant role in the attachment of proteins to...

Full description

Saved in:

Bibliographic Details
Main Authors:	Michał Patalan, Alicja Leśniak, Justyna Paprocka, Agnieszka Zubkiewicz-Kucharska, Kaja Giżewska-Kacprzak, Marta Glińska, Lidia Babiak-Choroszczak, Maria Giżewska, Robert Śmigiel
Format:	Article
Language:	English
Published:	Termedia Publishing House 2024-12-01
Series:	Pediatria Polska
Subjects:	congenital disorders of glycosylation inherited glycosylphosphatidylinositol deficiency disorders glycosylphosphatidylinositol-anchored proteins next-generation sequencing
Online Access:	https://www.termedia.pl/Inherited-glycosylphosphatidylinositol-deficiency-disorders-a-new-group-of-inherited-metabolic-disorders,127,55419,1,1.html
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Inherited metabolic disorders… …do not miss treatable diseases…
by: Maria Giżewska
Published: (2024-04-01)

The phenomenon of dormant inheritance in inheritance law
by: O. Ye. Kukhariev
Published: (2022-06-01)

Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders
by: Md Jobair Jony, et al.
Published: (2025-01-01)

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
by: Linxue Meng, et al.
Published: (2025-01-01)

The essence of the inheritance division agreement and its place in the system of civil law contracts
by: O. Ye. Kukhariev
Published: (2022-12-01)

Obesity in children: inheritance and treatment – state of art 2024
by: Małgorzata Wójcik, et al.
Published: (2024-10-01)

Capital on the moral continuum: the UK, Sweden, and the taxation of inherited wealth
by: Martin Eriksson, et al.
Published: (2020-12-01)

Research on the Challenges and Approaches to Family Inheritance of Ethnic Traditional Sports Culture
by: Caixia Jiang, et al.
Published: (2025-01-01)

Therapeutic landscape for inherited ocular diseases: current and emerging therapies
by: Hwei Wuen Chan, et al.
Published: (2023-01-01)

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
by: Simona Fecarotta, et al.
Published: (2025-01-01)

Nephews as Subjects of Inheritance: Theoretical and Practical Aspects
by: S. A. Maliar, et al.
Published: (2021-09-01)

Inheritance of yellow colour in safflower (Carthamus tinctorius L.)
by: T. V. Leus
Published: (2015-07-01)

PYROSEQUENCING: ITS POTENTIAL AND LIMITATIONS IN DIAGNOSIS OF INHERITED DISEASES IN CATTLE
by: Н. A. Kirsanova, et al.
Published: (2019-12-01)

Contextualizing Islamic Inheritance Law in Indonesia: Addressing Negative Stigma
by: Syabbul Bachri, et al.
Published: (2024-05-01)

Representation of the Expression of Ndebele Customary Law of Inheritance in Selected Educational Works in Zimbabwean Schools
by: Cordial Bhebe, et al.
Published: (2024-12-01)

Mind the gap: inheritance and inequality in retirement wealth
by: Lukas Brenner, et al.
Published: (2020-12-01)

Inheritance of real estate under conditions of cohabitation
by: Pushka D.
Published: (2024-12-01)

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation
by: Esha Thakkar, et al.
Published: (2025-01-01)

Legal regulation of inheritance relations under martial law
by: V. P. Makovii, et al.
Published: (2022-12-01)

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
by: Telma Machado, et al.
Published: (2025-01-01)

Evaluation of Crypto Assets in terms of Digital Legacy Dimension and Inheritance Tax
by: Burçin Bozdoğanoğlu
Published: (2024-06-01)

Associations of fasting plasma glucose and glycosylated hemoglobin levels at less than 24 weeks of gestation with hypertensive disorders of pregnancy: the BOSHI study
by: Seiya Izumi, et al.
Published: (2024-10-01)

BEHAVIOR OF RAT NEONATES WITH INHERITED STRESS-INDUCED ARTERIAL HYPERTENSION
by: I. O. Meshkov, et al.
Published: (2015-01-01)

Inheritance of effective juvenile leaf rust resistance in six accessions of Aegilops speltoides Tausch
by: M. A. Kolesova, et al.
Published: (2019-02-01)

Distributive Motives and Paternalistic Doctrine in Islamic Inheritance Law with Special Reference to Compulsory Wills
by: Setiyowati Setiyowati, et al.
Published: (2022-04-01)

Autism spectrum disorder, social anxiety and obsessive–compulsive disorders: beyond the comorbidity
by: Liliana Dell’Osso, et al.
Published: (2025-01-01)

Comparative analysis of inheritance rights of children with different religions from their heirs according to Islamic law and civil law
by: Auliya Khasanofa, et al.
Published: (2024-07-01)

Living, Caring, Learning - Thinking outside the box to solve care challenges in a rare blood disorder
by: Hibner Sandra
Published: (2024-02-01)

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report
by: Raeda Taj, et al.
Published: (2025-01-01)

Survey of Communication Disorders /
by: Palmer, John M. (John Milton), 1922-
Published: (1990)

The Inheritance and Variation of Floral Scent Compounds in Parent–Progeny Relationships of <i>Malus</i>
by: Junjun Fan, et al.
Published: (2024-12-01)

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants
by: Xue Fan, et al.
Published: (2025-01-01)

Amino Acids and Inherited Amino Acid-Related Disorders
by: Ina Knerr, et al.
Published: (2018-01-01)

A Comparison of Sexual Dysfunctions in Female Patients with Major Depressive Disorder and Panic Disorder
by: Tonguç Demir Berkol, et al.
Published: (2014-08-01)

Traditionalist identity pattern in inheritance among Serbs in the North of Kosovo and Metohija: The case of the city of Kosovska Mitrovica
by: Marjanović Milica M.
Published: (2024-01-01)

Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
by: Gerald Goh, et al.
Published: (2012-12-01)

Perspectives of substance use disorder counselors on the benefits and drawbacks of medications for opioid use disorder
by: Nicholas C. Cardamone, et al.
Published: (2025-02-01)

Study of Gaming Disorder and Its Association with Depressive Disorder and Anxiety among Medical Students in India
by: Hanee Patel, et al.
Published: (2025-01-01)

Genetic insights into psychotic major depressive disorder: bridging the mood-psychotic disorder spectrumResearch in context
by: Thuy-Dung Nguyen, et al.
Published: (2025-02-01)

Avoidant/Restrictive Food Intake Disorder (ARFID)
by: Lily Tucciarone, et al.
Published: (2023-03-01)