Results 131 to 140 of about 630,874 (291)

Profile of Congenital Hypothyroidism in DR. Cipto Mangunkusumo Hospital [PDF]

, 2013
Dana Nur Prihadi, Frida Soesanti, Aman B Pulungan, Bambang Tridjaja, Jose RL Batubara   +4 more
openalex   +1 more source

Congenital Hypothyroidism

Thyroid Disorders, 2019
Congenital hypothyroidism is one of the commonest preventable causes of mental retardation is also the most common congenital endocrine disorder of childhood.
Sanjay Saran
semanticscholar   +1 more source

Exploring a Circulating miRNA Signature for PMM2‐CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Florencia Epifani, Lluc Cabus, Gregorio A. Nolasco, Mercè Bolasell, Jennifer Pérez, Adrián Alcalá, Patricia Fernández, Esther Lizano, Gisela Márquez, Sonia Belmonte, Sílvia Carbonell‐Sala, Julien Lagarde, Joao Curado, Cristina Hernando‐Davalillo, Mercedes Serrano   +14 more
wiley   +1 more source

Thyroid Profile of Neonates Born to Mothers with Hypothyroidism Detected Before and During Pregnancy

Journal of Medical Sciences and Health
Introduction: Congenital hypothyroidism is a leading preventable cause of intellectual disability. This study explores whether maternal hypothyroidism provides a greater risk for congenital hypothyroidism and compares thyroid hormone levels in ...
Rhea Suzanne John, Shreedhara Avabratha, Sweta Shanbhag   +2 more
doaj   +1 more source

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Lissencephaly with Congenital Hypothyroidism: A Case Report

, 2022
Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai   +3 more
openalex   +2 more sources

Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

Annals of Pediatric Endocrinology & Metabolism, 2017
Purpose Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs.
I. S. Park, J. Yoon, C. So, Hae-sang Lee, J. Hwang   +4 more
semanticscholar   +1 more source

The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT North Sea‐Progressive Myoclonus Epilepsy (NS‐PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early‐onset ataxia, cortical myoclonus and epilepsy.
Sjoukje S. Polet, Elisabeth Z. Siegal, Sabine A. Fuchs, Marina A. J. Tijssen, Tom J. de Koning   +4 more
wiley   +1 more source

Transient congenital hypothyroidism

Indian Journal of Endocrinology and Metabolism, 2011
Transient thyroid function abnormalities in the new born which revert back to normal after varying periods of time are mostly identified in the neonatal screening tests for thyroid and are becoming more common because of the survival of many more ...
Nisha Bhavani
doaj   +1 more source

Congenital Hypothyroidism [PDF]

, 2020
National Cancer Institute
openalex   +1 more source