Canavan disease: value of N-acetylaspartic aciduria?

Evaluation of the new ICHD-III beta cluster headache criteria.

Cephalalgia : an international journal of headache·2015

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

European journal of neurology·2015

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

Mitochondrion·2012

The unfolding clinical spectrum of POLG mutations.

Journal of medical genetics·2009

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Journal of medical genetics·2005

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Human immunology·2002

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Neuropediatrics·2026

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Neuropediatrics·2026

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Neuropediatrics·2026

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Neuropediatrics·2026

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Neuropediatrics·2026

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Neuropediatrics·2026

Revisiting gut microbiota-driven ammonia metabolism: from disease burden to physiological adaptation.

Gut microbes·2026

Decision-Support Framework for Nutritional Risk in Small Cell Lung Cancer: A Time-Series Model Using Imputation Strategies for Incomplete Clinical Data.

Thoracic cancer·2026

Elevated Circulating Fibroblast Growth Factor 21 in Lean Type 2 Diabetes: Evidence of Metabolic Dysregulation in the Absence of Adiposity.

Kansas journal of medicine·2026

Engineered Marine Polysaccharide Carriers for Targeted Delivery in Diabetes Management.

International journal of nanomedicine·2026

Prevalence and risk factors of malnutrition in elderly patients with diabetes mellitus: a meta-analysis and systematic review.

Frontiers in nutrition·2026

The hallmarks of protein and amino acid restriction in aging and longevity.

Cell press blue·2026

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Canavan disease: value of N-acetylaspartic aciduria?

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Evaluation of the new ICHD-III beta cluster headache criteria.

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A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Revisiting gut microbiota-driven ammonia metabolism: from disease burden to physiological adaptation.

Decision-Support Framework for Nutritional Risk in Small Cell Lung Cancer: A Time-Series Model Using Imputation Strategies for Incomplete Clinical Data.

Elevated Circulating Fibroblast Growth Factor 21 in Lean Type 2 Diabetes: Evidence of Metabolic Dysregulation in the Absence of Adiposity.

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Canavan disease: value of N-acetylaspartic aciduria?

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