Fernando Scaglia

Medical Genetics | Pediatrics

7200 Cambridge St
Fl 10
Houston, TX 77030

Last Updated: 09/26/2026

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Found 135 publications

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

Journal: American journal of medical genetics. Part A

Published: May 01, 2026

Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.

Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.

Journal: Molecular genetics and metabolism

Published: April 20, 2026

L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study.

L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study.

Journal: Molecular genetics and metabolism

Published: March 14, 2026

JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

Journal: JIMD reports

Published: March 09, 2026

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Journal: American journal of medical genetics. Part A

Published: March 09, 2026

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.

Journal: American journal of medical genetics. Part A

Published: February 21, 2026

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Journal: Molecular genetics and metabolism

Published: February 03, 2026

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: January 23, 2026

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Journal: Therapeutic advances in rare disease

Published: January 14, 2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology

Published: January 10, 2026

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Journal: American journal of medical genetics. Part A

Published: November 23, 2025

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Journal: Brain communications

Published: September 15, 2025

Showing 1-12 of 135

Last Updated: 09/26/2026