Congenital Hypothyroidism
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Last Posted: Sep 19, 2023
- A retrospective study on newborn screening for metabolic disorders.
Karam Chandrajit Singh et al. Bioinformation 2023 18(12) 1122-1125 - Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.
Roseli Divino Costa et al. Rev Paul Pediatr 2023 42e2022161 - The Severity of Congenital Hypothyroidism with Gland-in-situ Predicts Molecular Yield by Targeted NGS.
Lucie Levaillant et al. The Journal of clinical endocrinology and metabolism 2023 - Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022 - Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.
Majid Hafsa et al. JPMA. The Journal of the Pakistan Medical Association 2022 72(3) 526-531 - Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana.
Alladin Bibi Areefa et al. BMJ open 2022 12(2) e046240 - Universal Implementation of Newborn Screening in India.
Mookken Thomas et al. International journal of neonatal screening 2020 Mar 6(2) - [50 years of the Neonatal Screening Program in Catalonia.]
Marín Soria Jose Luis et al. Revista espanola de salud publica 2020 Dec 94 - [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]
Sánchez Pintos Paula et al. Revista espanola de salud publica 2020 Dec 94 - [Results of the neonatal screening on Western Andalusia after a decade of experience.]
Delgado-Pecellín Carmen et al. Revista espanola de salud publica 2020 Dec 94 - Processing of positive newborn screening results: a qualitative exploration of current practice in England.
Chudleigh Jane et al. BMJ open 2020 Dec 10(12) e044755 - Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Lampret Barbka Repic et al. Zdravstveno varstvo 2020 Dec 59(4) 256-263 - Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results.
Wintergerst Kupper A et al. International journal of neonatal screening 2018 Jun 4(2) 18 - Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Marcão Ana et al. International journal of neonatal screening 2018 Sep 4(3) 22 - Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708 - Endocrine components of newborn screening.
Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772 - Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
Verma Jyotsna et al. Journal of pediatric intensive care 2020 Mar 9(1) 40-44 - Thirty years of the newborn screening program in Central Serbia: the missed cases of congenital hypothyroidism.
Milenkovic Tatjana et al. The Turkish journal of pediatrics 2019 61(3) 319-324 - Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience.
Kommalur Anitha et al. Journal of tropical pediatrics 2019 Dec - Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159 - Newborn screening in Nigeria: Associating the screening of congenital hypothyroidism and sickle cell disease can be a winning choice?
Yarhere Iroro Enameguolo et al. Acta bio-medica : Atenei Parmensis 2019 May 90(2) 316-320 - Newborn Screening for Congenital Hypothyroidism in India: Let's Just Do It!
Therrell Bradford L et al. Indian pediatrics 2019 Apr 56(4) 275-276 - Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings.
Murphy Malia S Q et al. Orphanet journal of rare diseases 2019 Jan 14(1) 25 - Parental awareness of newborn bloodspot screening in Ireland.
Fitzpatrick Patricia et al. Irish journal of medical science 2018 Dec - Newborn screening in the developing countries.
Therrell Bradford L et al. Current opinion in pediatrics 2018 Aug - Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016.
Jones David E et al. MMWR. Morbidity and mortality weekly report 2018 Jul 67(28) 782-785 - Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia.
et al. Indian journal of pediatrics 2018 Mar - Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan.
Tariq Batha et al. International health 2018 Mar - Newborn Screening in the US May Miss Mild Persistent Hypothyroidism.
Kilberg Marissa J et al. The Journal of pediatrics 2018 Jan 192204-208 - Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism.
Mehran Ladan et al. International journal of endocrinology and metabolism 2017 Jul 15(3) e55451
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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