Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Molecular genetics and metabolism·2017

Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

Gene therapy·2014

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse.

Gene therapy·2013

Arginase induction by sodium phenylbutyrate in mouse tissues and human cell lines.

Molecular genetics and metabolism·2006

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Journal of human evolution·2006

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.

Cytogenetic and genome research·2003

Incidence, Risk Factors, and Visual Outcomes of Ocular Hypertension in Pediatric Traumatic Hyphema.

The Journal of pediatrics·2026

The Golden Hour for Infants with Congenital Anomalies: Experience of the Special Delivery Unit.

The Journal of pediatrics·2026

Cerebrospinal Fluid Shunt Failure in Children Is Associated with Medical Complexity and Shunt Position, Not Shunt Technology: A Multicenter Prospective Study from the Hydrocephalus Clinical Research Network.

The Journal of pediatrics·2026

Skeletal Maturation Delay and ADHD Medication Use in Children with Constitutional Growth Delay: A Retrospective-Prospective Study.

The Journal of pediatrics·2026

School-Based Health and Healthcare Utilization Among Rural Youth: Evidence from a School-Based Health Center Opening.

The Journal of pediatrics·2026

Associations Between Saliva-Based Biomarkers and Pediatric Concussion Subtypes.

The Journal of pediatrics·2026

Post-Traumatic Primary Cutaneous Cryptococcosis Presenting as a Chronic Refractory Forearm Ulcer with Polymicrobial Coinfection: An mNGS-Assisted Case Report and Literature Review.

Clinical, cosmetic and investigational dermatology·2026

Diffuse Pleural Mesothelioma Initially Presenting as Cervical Lymphadenopathy: A Report of a Rare Case.

Cureus·2026

Cutaneous Mast Cell Tumor With Metastasis in a Pet Cairo Spiny Mouse (Acomys cahirinus): A Case Report With Clinicopathologic Characterization.

Case reports in veterinary medicine·2026

[Determination of influenza epidemic intensity thresholds for Tianjin using the moving epidemic method].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2026

Thoracentesis with pleural fluid cytology versus thoracoscopy with pleural biopsy for the diagnosis of malignant pleural effusion: a cost-effectiveness study.

Chest·2026

tDCS ameliorates CUMS-induced neuroinflammation and fasciitis by mediating microglial M1/M2 polarization.

Journal of neuroimmunology·2026

Related Experiment Videos

Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes

Related Concept Videos

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse.

Arginase induction by sodium phenylbutyrate in mouse tissues and human cell lines.

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.

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The Golden Hour for Infants with Congenital Anomalies: Experience of the Special Delivery Unit.

Cerebrospinal Fluid Shunt Failure in Children Is Associated with Medical Complexity and Shunt Position, Not Shunt Technology: A Multicenter Prospective Study from the Hydrocephalus Clinical Research Network.

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Associations Between Saliva-Based Biomarkers and Pediatric Concussion Subtypes.

Post-Traumatic Primary Cutaneous Cryptococcosis Presenting as a Chronic Refractory Forearm Ulcer with Polymicrobial Coinfection: An mNGS-Assisted Case Report and Literature Review.

Diffuse Pleural Mesothelioma Initially Presenting as Cervical Lymphadenopathy: A Report of a Rare Case.

Cutaneous Mast Cell Tumor With Metastasis in a Pet Cairo Spiny Mouse (Acomys cahirinus): A Case Report With Clinicopathologic Characterization.

[Determination of influenza epidemic intensity thresholds for Tianjin using the moving epidemic method].

Thoracentesis with pleural fluid cytology versus thoracoscopy with pleural biopsy for the diagnosis of malignant pleural effusion: a cost-effectiveness study.

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Related Experiment Videos

Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes

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