[Acute renal insufficiency in spotted fever]

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

Phenotype and genotype variation in primary carnitine deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics·2001

[Criteria of bistability of the cylindrical dendrite with the variable negative slope of the N-shaped current-voltage membrane characteristic].

Biofizika·2001

[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

[Efficacy and Safety of Endoscopic Clousure of Gastrointestinal Fistulas Using a New Endoscopic Suturing System (X-Tack) in Colombia: A Case Series].

Acta gastroenterologica Latinoamericana·2026

Venous excess and lung ultrasound during continuous renal replacement therapy in critically ill patients (VExLUS-RRT): a prospective observational study.

Annals of intensive care·2026

Dynamic Arrest and Tunable Gelation of Immunogenically Inert POEGMA Nanoparticles.

ACS polymers Au·2026

High-Performance Microchannel Flow Boiling Enhanced by Dual-Bionic Micro/Nano-Structures.

ACS applied materials & interfaces·2026

Acoustic virtual walls enable open, scalable, and programmable microfluidics.

Science advances·2026

Comparative Evaluation of Hematopoietic Stem Cell Cryopreservation Using Liquid Nitrogen Versus -80°C Storage.

Cureus·2026

Related Experiment Videos

[Acute renal insufficiency in spotted fever]

Related Concept Videos

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.

Phenotype and genotype variation in primary carnitine deficiency.

[Criteria of bistability of the cylindrical dendrite with the variable negative slope of the N-shaped current-voltage membrane characteristic].

[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].

[Efficacy and Safety of Endoscopic Clousure of Gastrointestinal Fistulas Using a New Endoscopic Suturing System (X-Tack) in Colombia: A Case Series].

Venous excess and lung ultrasound during continuous renal replacement therapy in critically ill patients (VExLUS-RRT): a prospective observational study.

Dynamic Arrest and Tunable Gelation of Immunogenically Inert POEGMA Nanoparticles.

High-Performance Microchannel Flow Boiling Enhanced by Dual-Bionic Micro/Nano-Structures.

Acoustic virtual walls enable open, scalable, and programmable microfluidics.

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[Acute renal insufficiency in spotted fever]

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