Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

BMC psychiatry·2024

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

Orphanet journal of rare diseases·2022

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression.

Molecular genetics and metabolism·2022

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Orphanet journal of rare diseases·2021

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Molecular genetics and metabolism·2018

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

JIMD reports·2017

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

Upregulation of CREB1 by Mycobacterium Tuberculosis Transcriptionally Activates TREM2 to Promote Macrophage M2 Polarization.

Cell biochemistry and function·2026

Medication Adherence Across Diseases Using the 8-Item Morisky Medication Adherence Scale (MMAS-8): A Systematic Review With Narrative Synthesis.

Cureus·2026

Mediterranean diet and health outcomes in idiopathic inflammatory myopathies.

Rheumatology (Oxford, England)·2026

Isolation and characterization of an algicolous endophytic Mucor circinelloides from macroalga Colpomenia sinuosa as a promising source of bioactive metabolites for dermocosmetic applications.

Scientific reports·2026

Agranulocytosis associated with metamizole among EudraVigilance reports involving methotrexate for rheumatoid arthritis.

Naunyn-Schmiedeberg's archives of pharmacology·2026

Genomic determinants of morphotype transition and biofilm formation in clinical Mycobacterium abscessus isolates.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases·2026

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Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein

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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression.

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

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.

Upregulation of CREB1 by Mycobacterium Tuberculosis Transcriptionally Activates TREM2 to Promote Macrophage M2 Polarization.

Medication Adherence Across Diseases Using the 8-Item Morisky Medication Adherence Scale (MMAS-8): A Systematic Review With Narrative Synthesis.

Mediterranean diet and health outcomes in idiopathic inflammatory myopathies.

Isolation and characterization of an algicolous endophytic Mucor circinelloides from macroalga Colpomenia sinuosa as a promising source of bioactive metabolites for dermocosmetic applications.

Agranulocytosis associated with metamizole among EudraVigilance reports involving methotrexate for rheumatoid arthritis.

Genomic determinants of morphotype transition and biofilm formation in clinical Mycobacterium abscessus isolates.

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Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein

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