[Organic acidemias: clinical, laboratory and therapeutic approach]

Evaluation of delay in time to adjuvant chemotherapy after HIPEC and its impact on oncological outcome in advanced epithelial ovarian cancer.

Pleura and peritoneum·2020

Objective-type dark-field illumination for scattering from microbeads.

Applied optics·2008

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Journal of inherited metabolic disease·2007

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Journal of inherited metabolic disease·2006

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Neuropediatrics·2004

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Journal of inherited metabolic disease·2004

[Oculoplastics and Orbital Surgery Section: Orbital Fractures].

Harefuah·2026

[Atypical Presentation of Extensive Aortic Dissection: Lessons from a Silent Killer].

Harefuah·2026

[Eyeball or Eye Wheel?]

Harefuah·2026

[Emerging Trends in Pediatric rheumatology: Key Insights from the PReS 2025 European Congress - Helsinki, Finland, September 2025].

Harefuah·2026

[The Laterality of Endometriosis].

Harefuah·2026

[OASIS: Long-Term Implications on Women's Quality of Life].

Harefuah·2026

Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.

Molecular genetics and metabolism·2026

Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.

Molecular genetics and metabolism·2026

[Research progress on the role and mechanism of lactate shuttle in regulating fiber type transition of skeletal muscle].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology·2026

Prognostic value of neutrophil percentage-to-albumin, uric acid-to-creatinine, and CRP-to-albumin ratios for mortality in patients on maintenance hemodialysis.

Jornal brasileiro de nefrologia·2026

Resolving challenges in detection and quantification of D-2-hydroxyglutarate and L-2-hydroxyglutarate via LC/MS.

Methods (San Diego, Calif.)·2026

Symbiotic cancer cell-stroma crosstalk in the acidic tumor microenvironment.

Journal of evolutionary biology·2026

Related Experiment Videos

[Organic acidemias: clinical, laboratory and therapeutic approach]

Related Concept Videos

Evaluation of delay in time to adjuvant chemotherapy after HIPEC and its impact on oncological outcome in advanced epithelial ovarian cancer.

Objective-type dark-field illumination for scattering from microbeads.

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

[Oculoplastics and Orbital Surgery Section: Orbital Fractures].

[Atypical Presentation of Extensive Aortic Dissection: Lessons from a Silent Killer].

[Eyeball or Eye Wheel?]

[Emerging Trends in Pediatric rheumatology: Key Insights from the PReS 2025 European Congress - Helsinki, Finland, September 2025].

[The Laterality of Endometriosis].

[OASIS: Long-Term Implications on Women's Quality of Life].

Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.

Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.

[Research progress on the role and mechanism of lactate shuttle in regulating fiber type transition of skeletal muscle].

Prognostic value of neutrophil percentage-to-albumin, uric acid-to-creatinine, and CRP-to-albumin ratios for mortality in patients on maintenance hemodialysis.

Resolving challenges in detection and quantification of D-2-hydroxyglutarate and L-2-hydroxyglutarate via LC/MS.

Symbiotic cancer cell-stroma crosstalk in the acidic tumor microenvironment.

Related Experiment Videos

[Organic acidemias: clinical, laboratory and therapeutic approach]

Related Concept Videos

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