-
1
Lactate and pyruvate as inborn errors of metabolism screening markers and their analytical challenges—a review
Published 2025-06-01Subjects: “…Inborn errors of metabolism…”
Get full text
Article -
2
A Metabolism Perspective on Pediatric Rhabdomyolysis
Published 2021-12-01Subjects: Get full text
Article -
3
Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature
Published 2025-06-01Subjects: Get full text
Article -
4
Human inborn errors of immunity: diagnosis and management
Published 2025-05-01Subjects: Get full text
Article -
5
Lymphoproliferation: How do You Evaluate for an Immune Deficiency?
Published 2023-09-01Subjects: Get full text
Article -
6
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review
Published 2025-04-01Subjects: Get full text
Article -
7
Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System
Published 2024-10-01Subjects: “…inborn errors of immunity…”
Get full text
Article -
8
A genome-wide association study of adults with community-acquired pneumonia
Published 2024-10-01Subjects: Get full text
Article -
9
Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry
Published 2025-12-01Subjects: Get full text
Article -
10
Vitamin B12 and Folate in Adherent and Non-Adherent Individuals with Phenylketonuria: A Cross-Sectional Study, Systematic Review, and Meta-Analysis
Published 2025-07-01Subjects: Get full text
Article -
11
Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity
Published 2025-06-01Subjects: Get full text
Article -
12
Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health
Published 2025-03-01Subjects: “…inborn errors of metabolism…”
Get full text
Article -
13
The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases
Published 2024-10-01Subjects: Get full text
Article -
14
Anti-cytokine autoantibodies in human susceptibility to infectious diseases: insights from Inborn errors of immunity
Published 2025-04-01Subjects: Get full text
Article -
15
Closing the gap: an urgent need for newborn screening of organic acid disorders in developing countries
Published 2024-05-01Subjects: “…Inborn errors of metabolism…”
Get full text
Article -
16
-
17
Unmasking inborn errors of immunity: identifying the red flags of immune dysregulation
Published 2024-12-01Subjects: “…inborn errors of immunity…”
Get full text
Article -
18
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Published 2025-08-01Subjects: Get full text
Article -
19
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing
Published 2025-05-01Subjects: “…Inborn errors of immunity…”
Get full text
Article -
20
Tests for Suspected Inborn Errors of Metabolism
Published 1995-11-01Subjects: “…inborn errors of metabolism…”
Get full text
Article