Ismael L. Machado

Sao Paulo, SP 04039060, Brazil

Last Updated: 09/26/2026

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Found 15 publications

LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects.

LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects.

Journal: Muscles (Basel, Switzerland)

Published: March 23, 2026

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.

Journal: Medical sciences (Basel, Switzerland)

Published: January 13, 2025

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.

Journal: Metabolites

Published: December 19, 2024

Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges.

Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges.

Journal: Genes

Published: February 06, 2024

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders.

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders.

Journal: Muscles (Basel, Switzerland)

Published: November 16, 2023

Brazilian registry of patients with porphyria: REBRAPPO study.

Brazilian registry of patients with porphyria: REBRAPPO study.

Journal: Orphanet journal of rare diseases

Published: August 21, 2022

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.

Journal: Journal of pediatric genetics

Published: October 15, 2021

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Journal: Orphanet journal of rare diseases

Published: June 20, 2021

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy.

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy.

Journal: Neurology

Published: February 11, 2021

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.

Journal: Arquivos de neuro-psiquiatria

Published: September 05, 2020

Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy.

Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy.

Journal: Arquivos de neuro-psiquiatria

Published: August 16, 2020

Psoriasis induced by a TNF-alpha antagonist in a patient with ulcerative colitis

Psoriasis induced by a TNF-alpha antagonist in a patient with ulcerative colitis

Journal: Acta gastroenterologica Latinoamericana

Published: February 07, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026