Editorial: Community series in primary immunodeficiencies worldwide, volume II

Authors: Antonio Condino-Neto, Anne-Sophie Korganow, Hirokazu Kanegane

Source: Frontiers in Immunology, Vol 16 (2025)

Subject Terms: primary immunodefciencies, inborn errors in immunity, epidemiology, genetic screen, newborn screen (NBS), Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2025.1564959/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/b3641bcac3f9474fb2730f0d3f39fa75

Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes

Authors: Bauchat, Andrea ^{a, ∗}, Stokhuyzen, Andre ^b, Driscoll, Timothy A. ^a, Martin, Paul L. ^a, Kurtzberg, Joanne ^a, Mahadeo, Kris M. ^{a, 1}, Prasad, Vinod K. ^{a, 1}

Source: In Pediatric Neurology February 2025 163:21-26

An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency

Authors: Rachel McGowan, Shoji Yano

Source: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101138- (2024)

Subject Terms: Hypocarnitinemia, Rhabdomyolysis, Hyperammonemia, Pancreatitis, Newborn screen, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000910; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/27c3134ae55d4f4ea9e5f1366199e3d1

Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

Authors: Shira G. Ziegler, Jiyoung Kim, Jeffrey T. Ehmsen, Hilary J. Vernon

Source: Disease Models & Mechanisms, Vol 16, Iss 11 (2023)

Subject Terms: amino acids, inborn errors of metabolism, newborn screen, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/16/11/dmm050233; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/4dcb9515753f4a8da52f7eb3fdac21ed

Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume II

Authors: Malgorzata Pac, Jean-Laurent Casanova, Irina Tuzankina, László Maródi

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: SCID (severe combined immunodeficiency), inborn error immunity, primary immunodeficiencies, antibody deficiency, newborn screen (NBS), JProject, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1221137/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/9e57dc67f9de4eeea400ebc1dee5b916

Natural history of propionic acidemia in the Amish population

Authors: Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100936- (2022)

Subject Terms: Propionic Acidemia, Amish, Newborn screen, Treatment, Cardiomyopathy, Seizures, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000969; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/46a41536862d448d9beb397b376e26f7

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

Authors: Yi Gan, Fei Yu, Haining Fang

Source: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-7 (2021)

Subject Terms: Carnitine palmitoyltransferase 1A deficiency, Tandem mass spectrometry, Gene mutation, Newborn screen, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/9e1e62d6f6744a51bd505874e4686e87

Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

Authors: Bonnie McCann-Crosby, Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton, Lefkothea P. Karaviti, Gagandeep Bhullar, Mimi S. Kim

Source: International Journal of Neonatal Screening, Vol 9, Iss 3, p 50 (2023)

Subject Terms: non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, second newborn screen, genotyping, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/3/50; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/ed79de73f1e0409a8a43b67b920b4ec3

Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening

Authors: Joan Kathleen DeCelie-Germana, Lynn Bonitz, Elinor Langfelder-Schwind, Catherine Kier, Barry Lawrence Diener, Maria Berdella

Source: Life, Vol 13, Iss 8, p 1646 (2023)

Subject Terms: cystic fibrosis, newborn screen, IRT, ethnic diversity, CF diagnostic challenges, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/13/8/1646; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/e28f8e6e2c094f3dbadec306887374e4

Newborn Screening for Cystic Fibrosis

Contributors: Barben, Jürg, Southern, Kevin

Subject Terms: newborn screening, immunoreactive trypsin(ogen), dried blood spot, radioimmunoassay, DNA, cystic fibrosis, incidence, malnutrition, cost, health policy, CF transmembrane conductance regulator-related metabolic syndrome, CF screen positive, inconclusive diagnosis, DNA analysis, next generation sequencing, extended genetic analysis, presumptive diagnosis, sweat test, parental information, newborn bloodspot screening, psychological impact, biochemical screening, pancreatitis associated protein, immunoreactive trypsinogen, cystic fibrosis screen positive, inconclusive diagnosis (CFSPID), bioethics, newborn screen, target disorder, missed case, sensitivity, CFSPID, immunoreactive trypsin, meconium ileus, diagnosis, therapy, prognosis, Medicine and Nursing

File Description: application/octet-stream

Access URL: https://directory.doabooks.org/handle/20.500.12854/69072
https://mdpi.com/books/pdfview/book/2841

Primary Immunodeficiencies Worldwide

Contributors: van Zelm, Menno C., Condino-Neto, Antonio, Barbouche, Mohamed-Ridha

Subject Terms: primary immunodeficencies (PID), intravenous immunoglobulin (IVIg), infectious disease, newborn screen (NBS), poliovirus (PV), Bacille Calmette-Guérin vaccine (BCG), developing and transition countries, consanguinity, Medicine and Nursing, Immunology

File Description: image/jpeg

Access URL: https://directory.doabooks.org/handle/20.500.12854/73672
https://www.frontiersin.org/research-topics/5275/primary-immunodeficiencies-worldwide#overview

Building research capacity for sickle cell disease in Africa: Lessons and challenges from establishing a birth cohort in Tanzania

Authors: Siana Nkya, Belinda J. Njiro, Doreen Ngowi, David Solomon, Frida Kaywanger, Salama Nyangasa, Godfrey Ndoje, Emmanuela Marco, Mazoea Moses, Julie Makani

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: Sickle Cell Disease, newborn screen (NBS), birth cohort, immunization, genetics, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.826199/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/4e3da346a2e4470bacc3968ec6d13ec7

Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency

Authors: Ting Zhang, Shasha Zhu, Haixia Miao, Jianbin Yang, Yezhen Shi, Yuwei Yue, Yu Zhang, Rulai Yang, Benqing Wu, Xinwen Huang

Source: Frontiers in Molecular Biosciences, Vol 9 (2022)

Subject Terms: NICCD, newborn-screen group, clinical diagnosed group, metabolic characteristics, progression, prognosis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.939837/full; https://doaj.org/toc/2296-889X

Access URL: https://doaj.org/article/41db918405e2496cb499eeb0cf52e4d5

Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling

Authors: Khaleel Qussous, Ibrahim Abdulhamid, Mary Kleyn, John Schuen, Samya Z. Nasr

Source: Respiratory Medicine Case Reports, Vol 36, Iss , Pp 101572- (2022)

Subject Terms: Cystic fibrosis, Newborn screen, Delayed diagnosis, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213007121002343; https://doaj.org/toc/2213-0071

Access URL: https://doaj.org/article/16a0418f5fff4449a910852074ade59a

Follow-up of infants with congenital hypothyroidism and low total thyroxine/thyroid stimulating hormone on newborn screen

Authors: Quinn McCormick, Leslie Pitts, Zachary Hughes

Source: Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 4, Pp 237-242 (2019)

Subject Terms: congenital hypothyroidism, low t4, newborn screen, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://e-apem.org/upload/pdf/apem-2019-24-4-237.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292

Access URL: https://doaj.org/article/db65fa244ded4483b714173fb1596b1d

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Authors: Vasudha Mantravadi, Jeffrey J. Bednarski, Michelle A. Ritter, Hongjie Gu, Ana L. Kolicheski, Caroline Horner, Megan A. Cooper, Maleewan Kitcharoensakkul

Source: Frontiers in Immunology, Vol 12 (2021)

Subject Terms: newborn screen (NBS), severe combined immune deficiency (SCID), TREC, lymphopenia, digeorge, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.734096/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/2431c519434a42b1a7690e1e98b716e5

Editorial: Primary Immunodeficiencies Worldwide

Authors: Menno C. van Zelm, Antonio Condino-Neto, Mohamed-Ridha Barbouche

Source: Frontiers in Immunology, Vol 10 (2020)

Subject Terms: primary immunodeficencies (PID), intravenous immunoglobulin (IVIg), infectious disease, newborn screen (NBS), poliovirus (PV), Bacille Calmette-Guérin vaccine (BCG), Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.03148/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/f1bddc2193614287a695cebead789beb

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Authors: Amarilla B. Mandola, Brenda Reid, Raga Sirror, Rae Brager, Peter Dent, Pranesh Chakroborty, Dennis E. Bulman, Chaim M. Roifman

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: ataxia telangiectasia, newborn screen, primary immunodeficiency, TRECs, lymphopenia, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.02940/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/33aa00ce00604df582e2f05c777e31f1

It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

Authors: Natasha Heather, Dianne Webster

Source: International Journal of Neonatal Screening, Vol 6, Iss 2, p 47 (2020)

Subject Terms: newborn screen, target disorder, missed case, sensitivity, cystic fibrosis, CFSPID, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/47; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/3305514f0e0f48938a079924a2d69881

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