Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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University of Exeter
Exeter, United Kingdom
University of Toronto
Toronto, Canada
Inserm
Paris, France
Stanford Medicine
Stanford, United States
Guy's and St Thomas' NHS Foundation Trust
London, United Kingdom
Hôpital Necker-Enfants Malades
Paris, France
Bambino Gesù Children's Hospital
Rome, Italy
Boston Children's Hospital
Boston, United States
University of Chicago
Chicago, United States
Oregon Health & Science University
Portland, United States
References
References (96)
- 1
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
Chao CS, McKnight KD, Cox KL, et al.
PloS one 2015; (10(2)):e0118449 doi:10.1371/journal.pone.0118449.
PMID: 25706805 - 2
Computed tomography and magnetic resonance imaging in neonates with congenital cardiovascular disease.
Chan FP, Hanneman K
Seminars in ultrasound, CT, and MR 2015; (36(2)):146-60.
PMID: 26001944 - 3
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
De Franco E, Ellard S
Pediatric clinics of North America 2015; (62(4)):1037-53.
PMID: 26210631 - 4
Imaging of congenital heart disease in adults.
Babu-Narayan SV, Giannakoulas G, Valente AM, et al.
European heart journal 2016; (37(15)):1182-95 doi:10.1093/eurheartj/ehv519.
PMID: 26424866 - 5
Do We Need More Than a Transthoracic Echocardiography When Evaluating Children with Congenital Heart Disease before Cardiac Surgery?
Alghamdi MH, Ismail MI, Yelbuz TM, Alhabshan F
Congenital heart disease 2016; (11(3)):262-9 doi:10.1111/chd.12312.
PMID: 26560082 - 6
Summary and recommendations from the Australasian guidelines for the management of pancreatic exocrine insufficiency.
, Smith RC, Smith SF, et al.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2016; (16(2)):164-80.
PMID: 26775768 - 7
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.
Rabbone I, Barbetti F, Marigliano M, et al.
Acta diabetologica 2016; (53(4)):559-65 doi:10.1007/s00592-015-0828-7.
PMID: 26831749 - 8
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling.
Xuan S, Sussel L
Development (Cambridge, England) 2016; (143(5)):780-6 doi:10.1242/dev.127217.
PMID: 26932670 - 9
Neonatal diabetes and protein losing enteropathy: a case report.
McMillan T, Girgis R, Sellers EA
BMC medical genetics 2016; (17()):32 doi:10.1186/s12881-016-0296-0.
PMID: 27098067 - 10
Children with medical complexity: a scoping review of interventions to support caregiver stress.
Edelstein H, Schippke J, Sheffe S, Kingsnorth S
Child: care, health and development 2017; (43(3)):323-333 doi:10.1111/cch.12430.
PMID: 27896838 - 11
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
Yau D, De Franco E, Flanagan SE, et al.
Diagnostic pathology 2017; (12(1)):1 doi:10.1186/s13000-016-0592-1.
PMID: 28049534 - 12
Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.
Day JO, Flanagan SE, Shepherd MH, et al.
Diabetic medicine : a journal of the British Diabetic Association 2017; (34(7)):1000-1004 doi:10.1111/dme.13328.
PMID: 28173619 - 13
Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic Development.
Shi ZD, Lee K, Yang D, et al.
Cell stem cell 2017; (20(5)):675-688.e6 doi:10.1016/j.stem.2017.01.001.
PMID: 28196600 - 14
[Pancreatic infringement exocrine and endocrine in cystic fibrosis].
Kessler L, Abély M
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2016; (23(12S)):12S21-12S32 doi:10.1016/S0929-693X(17)30059-3.
PMID: 28231890 - 15
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
Caetano LA, Santana LS, Costa-Riquetto AD, et al.
Clinical genetics 2018; (93(2)):382-386 doi:10.1111/cge.13044.
PMID: 28436541 - 16
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.
Gabbay M, Ellard S, De Franco E, Moisés RS
Journal of clinical research in pediatric endocrinology 2017; (9(3)):274-277 doi:10.4274/jcrpe.4494.
PMID: 28663161 - 17
Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair.
Araujo Júnior E, Carrilho MC, Toneto BR, Guilhen JCS
Journal of neonatal surgery 2017; (6(2)):32 doi:10.21699/jns.v6i2.503.
PMID: 28770129 - 18
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.
Zhang E, Hong N, Chen S, et al.
Gene 2018; (641()):341-348 doi:10.1016/j.gene.2017.10.083.
PMID: 29101065 - 19
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.
Wang X, Sterr M, Burtscher I, et al.
Molecular metabolism 2018; (9()):57-68 doi:10.1016/j.molmet.2018.01.011.
PMID: 29396371 - 20
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clinics in perinatology 2018; (45(1)):41-59 doi:10.1016/j.clp.2017.10.006.
PMID: 29406006 - 21
Heart Disease in Children.
Garcia RU, Peddy SB
Primary care 2018; (45(1)):143-154 doi:10.1016/j.pop.2017.10.005.
PMID: 29406940 - 22
Nutritional Status in the First 2 Years of Life in Cystic Fibrosis Diagnosed by Newborn Screening.
Munck A, Boulkedid R, Weiss L, et al.
Journal of pediatric gastroenterology and nutrition 2018; (67(1)):123-130 doi:10.1097/MPG.0000000000001956.
PMID: 29543697 - 23
Nutritional rehabilitation for children with congenital heart disease with left to right shunt.
El-Koofy N, Mahmoud AM, Fattouh AM
The Turkish journal of pediatrics 2017; (59(4)):442-451.
PMID: 29624225 - 24
Consensus recommendations for echocardiography in adults with congenital heart defects from the International Society of Adult Congenital Heart Disease (ISACHD).
Li W, West C, McGhie J, et al.
International journal of cardiology 2018; (272()):77-83 doi:10.1016/j.ijcard.2018.07.058.
PMID: 30017529 - 25
Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy.
Chen T, Zhang D, Bai Z, et al.
Diabetes therapy : research, treatment and education of diabetes and related disorders 2018; (9(5)):2179-2184 doi:10.1007/s13300-018-0484-3.
PMID: 30094785 - 26
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation.
Chia CY, Madrigal P, Denil SLIJ, et al.
Stem cell reports 2019; (12(1)):57-70 doi:10.1016/j.stemcr.2018.12.003.
PMID: 30629940 - 27
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
Auvin S, Bissler JJ, Cottin V, et al.
Orphanet journal of rare diseases 2019; (14(1)):91 doi:10.1186/s13023-019-1072-y.
PMID: 31039793 - 28
Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.
Du YT, Moore L, Poplawski NK, De Sousa SMC
Endocrinology, diabetes & metabolism case reports 2019; (2019()).
PMID: 31051468 - 29
Management of pancreatic exocrine insufficiency.
Dominguez-Muñoz JE
Current opinion in gastroenterology 2019; (35(5)):455-459 doi:10.1097/MOG.0000000000000562.
PMID: 31219829 - 30
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O, Konrad D, Joset P, Lang-Muritano M
Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(9)):1027-1030.
PMID: 31271559 - 31
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D, Tjong FVY, Barc J, et al.
American journal of medical genetics. Part A 2019; (179(9)):1836-1845 doi:10.1002/ajmg.a.61294.
PMID: 31301121 - 32
Management of Exocrine Pancreatic Insufficiency in Children.
Sankararaman S, Schindler T, Sferra TJ
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2019; (34 Suppl 1()):S27-S42 doi:10.1002/ncp.10388.
PMID: 31535732 - 33
Pancreatic Enzyme Replacement Therapy: A Concise Review.
Brennan GT, Saif MW
JOP : Journal of the pancreas 2019; (20(5)):121-125.
PMID: 31736680 - 34
Transition and Transfer From Pediatric to Adult Congenital Heart Disease Care in Canada: Call For Strategic Implementation.
Mackie AS, Fournier A, Swan L, et al.
The Canadian journal of cardiology 2019; (35(12)):1640-1651 doi:10.1016/j.cjca.2019.08.014.
PMID: 31813501 - 35
Development and validation of the University of Washington caregiver stress and benefit scales for caregivers of children with or without serious health conditions.
Amtmann D, Liljenquist KS, Bamer A, et al.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020; (29(5)):1361-1371 doi:10.1007/s11136-019-02409-0.
PMID: 31902052 - 36
Recent Advances in Neonatal Diabetes.
Dahl A, Kumar S
Diabetes, metabolic syndrome and obesity : targets and therapy 2020; (13()):355-364 doi:10.2147/DMSO.S198932.
PMID: 32104032 - 37
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
Raghuram N, Marwaha A, Greer MC, et al.
American journal of medical genetics. Part A 2020; (182(6)):1496-1499 doi:10.1002/ajmg.a.61569.
PMID: 32207556 - 38
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
Sanchez-Lechuga B, Saqlain M, Ng N, et al.
BMC medical genetics 2020; (21(1)):70 doi:10.1186/s12881-020-01012-2.
PMID: 32245430 - 39
Care coordination for children with medical complexity in Japan: Caregivers' perspectives.
Matsuzawa A, Shiroki Y, Arai J, Hirasawa A
Child: care, health and development 2020; (46(4)):436-444 doi:10.1111/cch.12767.
PMID: 32246855 - 40
A transition clinic intervention to improve follow-up rates in adolescents and young adults with congenital heart disease.
Gaydos SS, Chowdhury SM, Judd RN, McHugh KE
Cardiology in the young 2020; (30(5)):633-640 doi:10.1017/S1047951120000682.
PMID: 32279695 - 41
Imaging Modalities in Congenital Heart Disease.
Sachdeva S, Gupta SK
Indian journal of pediatrics 2020; (87(5)):385-397 doi:10.1007/s12098-020-03209-y.
PMID: 32285327 - 42
Management of a case of transient neonatal diabetes mellitus using continuous glucose monitoring.
Iwata N, Asui R, Mizumoto H, Hata D
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020; (29(2)):77-80 doi:10.1297/cpe.29.77.
PMID: 32313376 - 43
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA.
Miles ML, Cowan N, Jackson G
AACE clinical case reports 2020; (6(3)):e123-e126 doi:10.4158/ACCR-2019-0156.
PMID: 32524025 - 44
Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.
Hickey SE, Kellogg B, O'Brien M, et al.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1362-1369 doi:10.1177/1055665620947985.
PMID: 32787583 - 45
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Demirbilek H, Cayir A, Flanagan SE, et al.
The Journal of clinical endocrinology and metabolism 2020; (105(12)) doi:10.1210/clinem/dgaa613.
PMID: 32893856 - 46
State of the Art in Exocrine Pancreatic Insufficiency.
Diéguez-Castillo C, Jiménez-Luna C, Prados J, et al.
Medicina (Kaunas, Lithuania) 2020; (56(10)) doi:10.3390/medicina56100523.
PMID: 33036352 - 47
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A, Wasson LK, Willcox JA, et al.
eLife 2020; (9()).
PMID: 33054971 - 48
Interventional Cardiovascular Magnetic Resonance Imaging (iCMR) in an Adolescent with Pulmonary Hypertension.
Reddy SRV, Arar Y, Hussain T, et al.
Medicina (Kaunas, Lithuania) 2020; (56(12)) doi:10.3390/medicina56120636.
PMID: 33255307 - 49
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Abali ZY, De Franco E, Karakilic Ozturan E, et al.
Hormone research in paediatrics 2020; (93(7-8)):423-432 doi:10.1159/000512247.
PMID: 33498041 - 50
Resilience outstrips the negative effect of caregiver burden on quality of life among parents of children with type 1 diabetes: An Application of Johnson-Neyman Analysis.
Luo D, Gu W, Bao Y, et al.
Journal of clinical nursing 2021; (30(13-14)):1884-1892 doi:10.1111/jocn.15739.
PMID: 33656212 - 51
Discontinuity of Cardiac Follow-Up in Young People With Congenital Heart Disease Transitioning to Adulthood: A Systematic Review and Meta-Analysis.
Moons P, Skogby S, Bratt EL, et al.
Journal of the American Heart Association 2021; (10(6)):e019552 doi:10.1161/JAHA.120.019552.
PMID: 33660532 - 52
Lack of specialist care is associated with increased morbidity and mortality in adult congenital heart disease: a population-based study.
Diller GP, Orwat S, Lammers AE, et al.
European heart journal 2021; (42(41)):4241-4248 doi:10.1093/eurheartj/ehab422.
PMID: 34269382 - 53
Perinatal Cardiovascular Physiology and Recognition of Critical Congenital Heart Defects.
Singh Y, Lakshminrusimha S
Clinics in perinatology 2021; (48(3)):573-594 doi:10.1016/j.clp.2021.05.008.
PMID: 34353581 - 54
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M, Lebenthal Y, de Vries L, et al.
Pediatric diabetes 2022; (23(1)):45-54 doi:10.1111/pedi.13295.
PMID: 34837310 - 55
Utility of cardiac CT in infants with congenital heart disease: Diagnostic performance and impact on management.
Saengsin K, Pickard SS, Prakash A
Journal of cardiovascular computed tomography 2022; (16(4)):345-349 doi:10.1016/j.jcct.2021.12.004.
PMID: 34949532 - 56
Advances in Managing Transition to Adulthood for Adolescents With Congenital Heart Disease: A Practical Approach to Transition Program Design: A Scientific Statement From the American Heart Association.
John AS, Jackson JL, Moons P, et al.
Journal of the American Heart Association 2022; (11(7)):e025278 doi:10.1161/JAHA.122.025278.
PMID: 35297271 - 57
Pediatric Diastolic Heart Failure: Clinical Features Description of 421 Cases.
Pan B, Hu D, Sun H, et al.
Frontiers in pediatrics 2022; (10()):846408 doi:10.3389/fped.2022.846408.
PMID: 35586825 - 58
Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up.
Zanfardino A, Piscopo A, Curto S, et al.
Diabetes & metabolic syndrome 2022; (16(7)):102561 doi:10.1016/j.dsx.2022.102561.
PMID: 35809554 - 59
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Passone CGB, Vermillac G, Staels W, et al.
Frontiers in endocrinology 2022; (13()):802351 doi:10.3389/fendo.2022.802351.
PMID: 35813646 - 60
Defining the rate of nutritional and metabolic derangements after pancreatic resection.
Percy KL, Ooi YX, Nahm CB, et al.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2022; (22(7)):1028-1034 doi:10.1016/j.pan.2022.07.014.
PMID: 35948507 - 61
American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.
Blonde L, Umpierrez GE, Reddy SS, et al.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022; (28(10)):923-1049 doi:10.1016/j.eprac.2022.08.002.
PMID: 35963508 - 62
[Cardiac MRI of congenital heart disease : From fetus to adult].
Vollbrecht TM, Luetkens JA
Radiologie (Heidelberg, Germany) 2022; (62(11)):933-940 doi:10.1007/s00117-022-01062-y.
PMID: 35976404 - 63
A practical guideline for performing a comprehensive transthoracic echocardiogram in the congenital heart disease patient: consensus recommendations from the British Society of Echocardiography.
Corbett L, Forster J, Gamlin W, et al.
Echo research and practice 2022; (9(1)):10 doi:10.1186/s44156-022-00006-5.
PMID: 36253815 - 64
Disparities in Loss to Follow-Up Among Adults With Congenital Heart Disease in North Carolina.
Serfas JD, Spates T, D'Ottavio A, et al.
World journal for pediatric & congenital heart surgery 2022; (13(6)):707-715 doi:10.1177/21501351221111998.
PMID: 36300264 - 65
Common diagnostic errors in adults with congenital heart disease.
Celermajer DS, Baker DW, Cordina RL, et al.
European heart journal 2023; (44(34)):3217-3227 doi:10.1093/eurheartj/ehac717.
PMID: 36527303 - 66
Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.
Ritivoiu ME, Drăgoi CM, Matei D, et al.
Pharmaceutics 2023; (15(1)) doi:10.3390/pharmaceutics15010162.
PMID: 36678791 - 67
Strategies to Aid Successful Transition of Adolescents with Congenital Heart Disease: A Systematic Review.
Bassareo PP, Chessa M, Di Salvo G, et al.
Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030423.
PMID: 36979981 - 68
Referral Order Placement Decreases Time to Transfer to Adult Congenital Heart Disease Care.
Burger D, Denfeld QE, Evers PD, et al.
Pediatric cardiology 2024; (45(7)):1424-1429 doi:10.1007/s00246-023-03164-3.
PMID: 37103492 - 69
Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X, Luo Y, Wang J, Huang D
Molecular biotechnology 2024; (66(3)):467-474 doi:10.1007/s12033-023-00761-8.
PMID: 37204622 - 70
Clinical and molecular description of two cases of neonatal diabetes secondary to mutations in PDX1.
Forero-Castro N, Ramirez LC, Celis JC, et al.
Endocrinology, diabetes & metabolism case reports 2023; (2023(3)).
PMID: 37417678 - 71
Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.
Lee MY, Gloyn AL, Maahs DM, Prahalad P
Case reports in endocrinology 2023; (2023()):8825724 doi:10.1155/2023/8825724.
PMID: 37664823 - 72
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
Yasuhara J, Manivannan SN, Majumdar U, et al.
Pediatric research 2024; (95(1)):146-155 doi:10.1038/s41390-023-02811-y.
PMID: 37700164 - 73
AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review.
Whitcomb DC, Buchner AM, Forsmark CE
Gastroenterology 2023; (165(5)):1292-1301 doi:10.1053/j.gastro.2023.07.007.
PMID: 37737818 - 74
Exocrine Pancreatic Insufficiency in Children - Challenges in Management.
Sankararaman S, Schindler T
Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.
PMID: 37908317 - 75
ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis.
Wilschanski M, Munck A, Carrion E, et al.
Clinical nutrition (Edinburgh, Scotland) 2024; (43(2)):413-445 doi:10.1016/j.clnu.2023.12.017.
PMID: 38169175 - 76
Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.
Al Homyani DK, Al Homaiani L
AACE clinical case reports 2024; (10(1)):7-9 doi:10.1016/j.aace.2023.10.004.
PMID: 38303767 - 77
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, et al.
The Journal of clinical endocrinology and metabolism 2024; (109(9)):2349-2357 doi:10.1210/clinem/dgae095.
PMID: 38408297 - 78
Effectiveness of family centred interventions for family caregivers: A systematic review and meta-analysis of randomized controlled trials.
Wang Z, Yu S, Liu Y, et al.
Journal of clinical nursing 2024; (33(5)):1958-1975 doi:10.1111/jocn.17091.
PMID: 38439168 - 79
Two-Dimensional and Doppler trans-thoracic echocardiographic patterns of suspected pediatric heart diseases at Tibebe--Ghion specialized Teaching Hospital and Adinas General Hospital, Bahir Dar, North-west Ethiopia:-An experience from an LMIC.
Gelaw TT, Yehuala AA, Mengste SZ, et al.
PloS one 2024; (19(3)):e0292694 doi:10.1371/journal.pone.0292694.
PMID: 38466681 - 80
A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.
Pugnaloni F, Martini L, De Rose DU, et al.
Hormone research in paediatrics 2025; (98(3)):282-288 doi:10.1159/000536621.
PMID: 38574486 - 81
Care for the caregiver: an exploration of caregiver burden of children with chronic medical conditions at a tertiary care hospital in Karachi, Pakistan - a mixed-methods study.
Saeed S, Malik MGR, Khan MH, et al.
BMJ open 2024; (14(5)):e083088 doi:10.1136/bmjopen-2023-083088.
PMID: 38777589 - 82
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis.
Bisson JA, Gordillo M, Kumar R, et al.
bioRxiv : the preprint server for biology 2025; doi:10.1101/2024.07.09.602666.
PMID: 39026742 - 83
Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.
Panza R, Cattivera V, Colella J, et al.
Diabetes therapy : research, treatment and education of diabetes and related disorders 2024; (15(11)):2293-2308 doi:10.1007/s13300-024-01653-z.
PMID: 39292435 - 84
The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.
Sechko EA, Koltakova MP, Khusainova RI, et al.
International journal of molecular sciences 2024; (25(22)) doi:10.3390/ijms252211998.
PMID: 39596087 - 85
Missed or Delayed Diagnosis of Heart Disease by the General Pediatrician.
Karatza AA, Fouzas S, Gkentzi D, et al.
Children (Basel, Switzerland) 2025; (12(3)) doi:10.3390/children12030366.
PMID: 40150649 - 86
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.
McCullough ME, Letourneau-Freiberg LR, Bowden TL, et al.
Pediatric diabetes 2024; (2024()):3624339 doi:10.1155/pedi/3624339.
PMID: 40302951 - 87
Screening for Caregiver Stress in an Urban Medical Home for Children with Medical Complexity: Results of a Pilot Study.
Horton CL, Heier JE, Barber JR, Brodie N
Children (Basel, Switzerland) 2025; (12(4)) doi:10.3390/children12040434.
PMID: 40310037 - 88
Successful Treatment of a Very Low-Birth-Weight Infant With GATA6 Neonatal Diabetes Using Continuous Subcutaneous Insulin Infusion.
Ito T, Suzuki A, Yamaguchi N, et al.
Cureus 2025; (17(5)):e83555 doi:10.7759/cureus.83555.
PMID: 40476119 - 89
Children With Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.
Denson AM, Rodriguez KE, Letourneau-Freiberg LR, et al.
The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1164-e1173 doi:10.1210/clinem/dgaf473.
PMID: 41006196 - 90
The impact of congenital heart disease on somatic growth: a monozygotic twin study.
Lee JH, Yun TJ, Kwon SJ, et al.
European journal of pediatrics 2025; (184(12)):770 doi:10.1007/s00431-025-06635-2.
PMID: 41251857 - 91
Role of elexacaftor-tezacaftor-ivacaftor therapy on fecal elastase-1 and fat-soluble vitamins in children with cystic fibrosis.
Eryilmaz Polat S, Özkan Tabakçı S, Bilgiç I, et al.
European journal of pediatrics 2026; (185(2)):72.
PMID: 41526774 - 92
Newborn Respiratory Distress: Evaluation and Management.
Buel KL, Gould E
American family physician 2026; (113(1)):35-41.
PMID: 41544279 - 93
Impact of caregivers' psychological well-being on mental health and disease management in children with type 1 diabetes: A cross-sectional study using structural equation modeling.
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