Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Journal of inherited metabolic disease·2026

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Molecular genetics and metabolism reports·2025

Recovery from Cranial Nerve Symptoms after Flow Diversion without Coiling for Unruptured Very Large and Giant ICA Aneurysms.

AJNR. American journal of neuroradiology·2022

Predictors of the Effects of Flow Diversion in Very Large and Giant Aneurysms.

AJNR. American journal of neuroradiology·2021

Intraprocedural Flat Panel Detector Rotational Angiography and an Image Fusion Technique for Delivery of a Microcatheter into the Targeted Shunt Pouch of a Dural Arteriovenous Fistula.

AJNR. American journal of neuroradiology·2020

The Fate of Unruptured Intracranial Vertebrobasilar Dissecting Aneurysm with Brain Stem Compression According to Different Treatment Modalities.

AJNR. American journal of neuroradiology·2019

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

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

Quantitative MRI assessment of multifidus and erector spinae fatty degeneration in Parkinson's disease patients with lumbar degenerative disease: a propensity score-matched study.

Frontiers in medicine·2026

Hormonal Modulation of Subjective Sleep Quality and Perivascular Space Volume Across the Menstrual Cycle: An Observational Dense-Sampling Study.

bioRxiv : the preprint server for biology·2026

Differential Associations of Postoperative Plasma and Cerebrospinal Fluid Albumin Changes with Delirium Following Non-Cardiac Surgery.

medRxiv : the preprint server for health sciences·2026

Single residues within the YTHDF intrinsically disordered region control m 6 A-dependent mRNA decay.

bioRxiv : the preprint server for biology·2026

Spatial organization of voltage-gated ion channel expression across molecularly defined neuronal populations in the mouse mammillary bodies.

bioRxiv : the preprint server for biology·2026

Peroxisomal Import Stress Drives Cellular Senescence through SCAF1-dependent Suppression of Mitoribosome Biogenesis.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency

Related Concept Videos

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Recovery from Cranial Nerve Symptoms after Flow Diversion without Coiling for Unruptured Very Large and Giant ICA Aneurysms.

Predictors of the Effects of Flow Diversion in Very Large and Giant Aneurysms.

Intraprocedural Flat Panel Detector Rotational Angiography and an Image Fusion Technique for Delivery of a Microcatheter into the Targeted Shunt Pouch of a Dural Arteriovenous Fistula.

The Fate of Unruptured Intracranial Vertebrobasilar Dissecting Aneurysm with Brain Stem Compression According to Different Treatment Modalities.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

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.

Quantitative MRI assessment of multifidus and erector spinae fatty degeneration in Parkinson's disease patients with lumbar degenerative disease: a propensity score-matched study.

Hormonal Modulation of Subjective Sleep Quality and Perivascular Space Volume Across the Menstrual Cycle: An Observational Dense-Sampling Study.

Differential Associations of Postoperative Plasma and Cerebrospinal Fluid Albumin Changes with Delirium Following Non-Cardiac Surgery.

Single residues within the YTHDF intrinsically disordered region control m 6 A-dependent mRNA decay.

Spatial organization of voltage-gated ion channel expression across molecularly defined neuronal populations in the mouse mammillary bodies.

Peroxisomal Import Stress Drives Cellular Senescence through SCAF1-dependent Suppression of Mitoribosome Biogenesis.

Related Experiment Videos

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency

Related Concept Videos

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