A new variant of the carbohydrate deficient glycoproteins syndrome

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

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

A probiotic Bifidobacterium pseudocatenulatum converts hesperidin to bioactive hesperetin and improves metabolic dysfunction in aging mice.

Gut microbes·2026

Inulin ameliorates sarcopenic obesity: critical roles of gut microbiota and bile acid metabolism.

Food & function·2026

Animal- and Plant-Source Protein-Rich Foods Differ in Their Association With Maternal Micronutrient Status and Breast Milk Composition During Lactation.

Maternal & child nutrition·2026

Serum fatty acid profile and desaturase activity in hypertensive patients with and without metabolic syndrome.

Journal of hypertension·2026

[Emotional factors and eating styles as predictors of binge eating disorder symptoms in women with overweight or obesity, considering age and nutritional status].

Nutricion hospitalaria·2026

Ketogenic diet reverses obesity-associated hippocampal dysfunction and cognitive impairment in rats: a dietary comparison study.

Nutritional neuroscience·2026

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A new variant of the carbohydrate deficient glycoproteins syndrome

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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.

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

A probiotic Bifidobacterium pseudocatenulatum converts hesperidin to bioactive hesperetin and improves metabolic dysfunction in aging mice.

Inulin ameliorates sarcopenic obesity: critical roles of gut microbiota and bile acid metabolism.

Animal- and Plant-Source Protein-Rich Foods Differ in Their Association With Maternal Micronutrient Status and Breast Milk Composition During Lactation.

Serum fatty acid profile and desaturase activity in hypertensive patients with and without metabolic syndrome.

[Emotional factors and eating styles as predictors of binge eating disorder symptoms in women with overweight or obesity, considering age and nutritional status].

Ketogenic diet reverses obesity-associated hippocampal dysfunction and cognitive impairment in rats: a dietary comparison study.

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A new variant of the carbohydrate deficient glycoproteins syndrome

Related Concept Videos

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