Inborn errors of metabolism screening in neonates: Current perspective with diagnosis and therapy

S Mukherjee, SK Ray - Current Pediatric Reviews, 2022 - ingentaconnect.com
Inborn errors of metabolism (IEMs) are rare hereditary or acquired disorders resulting from
an enzymatic deformity in biochemical and metabolic pathways influencing proteins, fats …

[HTML][HTML] Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice

M Agana, J Frueh, M Kamboj, DR Patel… - Annals of translational …, 2018 - ncbi.nlm.nih.gov
Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an
enzyme defect in biochemical and metabolic pathways affecting proteins, fats …

Newborn screening and inborn errors of metabolism

K Patel, SR Master - Contemporary Practice in Clinical Chemistry, 2020 - Elsevier
Inborn errors of metabolism (IEMs) are a broad category of genetic disorders caused by
defects in biochemical pathways important for breakdown of biomolecules and energy …

[图书][B] Inborn errors of metabolism: from neonatal screening to metabolic pathways

MD Brendan Lee, F Scaglia - 2014 - books.google.com
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical
biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of …

[PDF][PDF] Inborn errors of metabolism

AW El-Hattab - Clinics in perinatology, 2015 - neopuertomontt.com
Inborn errors of metabolism (IEMs) are a group of disorders each of which results from
deficient activity of a single enzyme in a metabolic pathway. Although IEMs are individually …

Occurrence of inborn errors of metabolism in newborns, diagnosis and prophylaxis

A Bharadwaj, N Wahi, A Saxena - Endocrine, Metabolic & …, 2021 - ingentaconnect.com
Inborn errors of metabolism (IEM) are a heterogeneous group of rare genetic disorders that
are generally transmitted as autosomal or X-linked recessive disorders. These defects arise …

Clinical approach to the diagnoses of inborn errors of metabolism

M Kamboj - Pediatric Clinics of North America, 2008 - Elsevier
Inborn errors of metabolism (IEMs) are complex relatively uncommon medical conditions
resulting in significant morbidity and mortality. Early recognition and implementation of …

Current scenario of clinical diagnosis to identify inborn errors of metabolism with precision profiling for expanded screening in infancy in a resource-limited setting

S Mukherjee, A Kotnis, SK Ray… - Current Pediatric …, 2023 - ingentaconnect.com
Inborn errors of metabolism (IEM) are a diverse collection of abnormalities that cause a
variety of morbidities and mortality in children and are classified as uncommon genetic …

Inborn errors of metabolism

MK Kamboj - … Disabilities: Clinical Care for Children and Young …, 2011 - Springer
Inborn errors of metabolism (IEMs) are a set of relatively uncommon complicated medical
conditions involving abnormalities in the complex biochemical and metabolic pathways of …

[HTML][HTML] Inborn errors of metabolism: identifying the specific disorder

VR Sutton, S Hahn, E TePas - UpToDate [serial on the Internet]. Waltham …, 2022 - medilib.ir
INTRODUCTION—Optimal outcome for children with inborn errors of metabolism (IEM)
depends upon recognition of the signs and symptoms of metabolic disease, prompt …