Molecular genetics of Tay-Sachs disease in Japan

Peroxisomal acetoacetyl-CoA thiolase of an n-alkane-utilizing yeast, Candida tropicalis.

European journal of biochemistry·1992

Isolation and characterization of cDNAs from BamHI-H gene family RNAs associated with the tumorigenicity of Marek's disease virus.

Journal of virology·1992

Studies on antiplatelet agents. I. Synthesis and platelet inhibitory activity of 5-alkyl-2-aryl-4-pyridylimidazoles.

Chemical & pharmaceutical bulletin·1992

Physiological roles of acetoacetyl-CoA thiolase in n-alkane-utilizable yeast, Candida tropicalis: possible contribution to alkane degradation and sterol biosynthesis.

Journal of biochemistry·1992

Analyses of the risk and operative stress for donors in living-related partial liver transplantation.

Transplantation·1992

Cloning and characterization of the secY gene from the cyanobacterium Synechococcus PCC7942.

Biochimica et biophysica acta·1992

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

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Clinical Efficacy of High-Frequency Deep Repetitive Transcranial Magnetic Stimulation in the Treatment of Depression and the Predictive Role of Baseline Triglyceride Levels: A Randomized Sham-Controlled Trial.

Clinical EEG and neuroscience·2026

Mechanistic Basis and Therapeutic Potential of a Novel TXNIP Inhibitor in Diabetes Treatment.

Journal of medicinal chemistry·2026

Discovery of BRD9 PROTAC/IMiD Bifunctional Molecules as Potent Therapeutics for Hematologic Malignancies.

Journal of medicinal chemistry·2026

First line asciminib in chronic myeloid leukemia: a quest for the "Holy Grail" of tolerability.

Haematologica·2026

Successful treatment of systemic juvenile xanthogranuloma with an ABL2::GAB2 fusion using dasatinib after failure of conventional chemotherapy and MEK inhibition.

Haematologica·2026

Repurposing MK0873 as a non-covalent hTERT-Targeting compound: a proof of concept study.

Frontiers in aging·2026

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Molecular genetics of Tay-Sachs disease in Japan

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Peroxisomal acetoacetyl-CoA thiolase of an n-alkane-utilizing yeast, Candida tropicalis.

Isolation and characterization of cDNAs from BamHI-H gene family RNAs associated with the tumorigenicity of Marek's disease virus.

Studies on antiplatelet agents. I. Synthesis and platelet inhibitory activity of 5-alkyl-2-aryl-4-pyridylimidazoles.

Physiological roles of acetoacetyl-CoA thiolase in n-alkane-utilizable yeast, Candida tropicalis: possible contribution to alkane degradation and sterol biosynthesis.

Analyses of the risk and operative stress for donors in living-related partial liver transplantation.

Cloning and characterization of the secY gene from the cyanobacterium Synechococcus PCC7942.

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.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Clinical Efficacy of High-Frequency Deep Repetitive Transcranial Magnetic Stimulation in the Treatment of Depression and the Predictive Role of Baseline Triglyceride Levels: A Randomized Sham-Controlled Trial.

Mechanistic Basis and Therapeutic Potential of a Novel TXNIP Inhibitor in Diabetes Treatment.

Discovery of BRD9 PROTAC/IMiD Bifunctional Molecules as Potent Therapeutics for Hematologic Malignancies.

First line asciminib in chronic myeloid leukemia: a quest for the "Holy Grail" of tolerability.

Successful treatment of systemic juvenile xanthogranuloma with an ABL2::GAB2 fusion using dasatinib after failure of conventional chemotherapy and MEK inhibition.

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Molecular genetics of Tay-Sachs disease in Japan

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