Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies

Effects of Pathogen Density, Soil Moisture, and Soil pH on Biological Control of Clubroot in Chinese Cabbage by Heteroconium chaetospira.

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Control of Verticillium Yellows in Chinese Cabbage by the Dark Septate Endophytic Fungus LtVB3.

Phytopathology·2008

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Human genetics·2001

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Journal of human genetics·2001

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Journal of human genetics·2001

Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

Pediatric research·2000

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

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

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

The fermentation behavior of pectin by B. thetaiotaomicron and L. rhamnosus: insights into the changes in pectin structure and the metabolite profiles.

International journal of biological macromolecules·2026

New Views on Cobalamin in Marine Microbial Ecosystems.

Annual review of marine science·2026

Long-Term Effects of Bariatric Surgery on Type 2 Diabetes: Mechanisms, Outcomes, and Clinical Implications: A Focused Review.

Journal of visualized experiments : JoVE·2026

Metabolic interactions and growth dynamics of Bifidobacterium strains in response to human milk oligosaccharides and lactose.

Frontiers in microbiology·2026

Cerebrospinal fluid leakage-associated bacterial meningitis diagnosed by evaluating glucose concentration in nasal discharge and cerebrospinal fluid: A two-case series.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy·2026

Sequential liraglutide and setmelanotide therapy in Bardet-Biedl Syndrome: metabolic and renal outcomes in a real-world case report and literature review.

Nephron·2026

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Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies

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Effects of Pathogen Density, Soil Moisture, and Soil pH on Biological Control of Clubroot in Chinese Cabbage by Heteroconium chaetospira.

Control of Verticillium Yellows in Chinese Cabbage by the Dark Septate Endophytic Fungus LtVB3.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

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Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

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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.

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Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies

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