Carbohydrate-deficient glycoprotein syndrome type II

CDG due to Defective Membrane Transporters: Update.

Journal of inherited metabolic disease·2026

From Burden to Empowerment. Patient-Reported Influencing Factors on Participation in Shared Decision Making in Oncology, a Meta-Study.

Psycho-oncology·2025

Shared challenges and opportunities: Uncovering common ground in patient participation across different healthcare settings and patient groups. A qualitative meta-summary on patient-reported barriers and facilitators to participation in shared decision-making.

Patient education and counseling·2024

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Orphanet journal of rare diseases·2022

Assessing the effects of PMM2 variants on protein stability.

Molecular genetics and metabolism·2021

The challenge of CDG diagnosis.

Molecular genetics and metabolism·2018

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Journal of inherited metabolic disease·2026

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

In silico, in vitro, and in vivo evaluation of the antiviral potential of glycyrrhizic acid and chitosan nanoparticles against foot and mouth disease virus.

Virology journal·2026

Cryopreservation-induced proteomic alterations in Pêga donkey (Equus asinus) spermatozoa.

Cryobiology·2026

Severe Gastrointestinal Disease in a Dog Presenting With Hypoadrenocorticism-Like Electrolyte Derangements Due to Protothecosis.

Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)·2026

Pathological, microbiological, and molecular characterization of uterine samples in culled sows from farms with a history of reproductive failure in Brazil.

Veterinary research communications·2026

Liver histopathological findings and clinical associations in dogs undergoing cholecystectomy for gallbladder mucocele.

The Journal of veterinary medical science·2026

Spinal arachnoid diverticula and constrictive myelopathy in dogs: different conditions or a spectrum of spinal meningeal disease in veterinary and human medicine?

Frontiers in veterinary science·2026

Related Experiment Videos

Carbohydrate-deficient glycoprotein syndrome type II

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CDG due to Defective Membrane Transporters: Update.

From Burden to Empowerment. Patient-Reported Influencing Factors on Participation in Shared Decision Making in Oncology, a Meta-Study.

Shared challenges and opportunities: Uncovering common ground in patient participation across different healthcare settings and patient groups. A qualitative meta-summary on patient-reported barriers and facilitators to participation in shared decision-making.

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Assessing the effects of PMM2 variants on protein stability.

The challenge of CDG diagnosis.

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

In silico, in vitro, and in vivo evaluation of the antiviral potential of glycyrrhizic acid and chitosan nanoparticles against foot and mouth disease virus.

Cryopreservation-induced proteomic alterations in Pêga donkey (Equus asinus) spermatozoa.

Severe Gastrointestinal Disease in a Dog Presenting With Hypoadrenocorticism-Like Electrolyte Derangements Due to Protothecosis.

Pathological, microbiological, and molecular characterization of uterine samples in culled sows from farms with a history of reproductive failure in Brazil.

Liver histopathological findings and clinical associations in dogs undergoing cholecystectomy for gallbladder mucocele.

Spinal arachnoid diverticula and constrictive myelopathy in dogs: different conditions or a spectrum of spinal meningeal disease in veterinary and human medicine?

Related Experiment Videos

Carbohydrate-deficient glycoprotein syndrome type II

Related Concept Videos

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