Phosphomannomutase deficiency and normal pubertal development

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CDG due to Defective Membrane Transporters: Update.

Journal of inherited metabolic disease·2026

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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

BMJ case reports·2025

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

Psycho-oncology·2025

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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

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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

Same author

Assessing the effects of PMM2 variants on protein stability.

Molecular genetics and metabolism·2021

Same journal

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Journal of inherited metabolic disease·2026

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Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.

Journal of inherited metabolic disease·2026

Same journal

Immune Dysregulation in Branched Chain Organic Acidemias.

Journal of inherited metabolic disease·2026

Same journal

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Journal of inherited metabolic disease·2026

Same journal

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal of inherited metabolic disease·2026

Same journal

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Journal of inherited metabolic disease·2026

Related Experiment Videos

Phosphomannomutase deficiency and normal pubertal development

Related Concept Videos

CDG due to Defective Membrane Transporters: Update.

Deletion of <i>C2orf34</i>, <i>PREPL</i> and <i>SLC3A1</i> causes atypical hypotonia-cystinuria syndrome.

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.

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.

Immune Dysregulation in Branched Chain Organic Acidemias.

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Related Experiment Videos

Phosphomannomutase deficiency and normal pubertal development

Related Concept Videos

Related Articles

CDG due to Defective Membrane Transporters: Update.

Deletion of <i>C2orf34</i>, <i>PREPL</i> and <i>SLC3A1</i> causes atypical hypotonia-cystinuria syndrome.

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.

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.

Immune Dysregulation in Branched Chain Organic Acidemias.

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.