Suchergebnisse - "Neonatal Screening / organization & administration"
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Autoren: et al.
Weitere Verfasser: et al.
Schlagwörter: Adult, Consumer Behavior, Consumer Health Information/methods, Consumer Health Information/organization & administration, Consumer Health Information/standards, Cystic Fibrosis/diagnosis, Cystic Fibrosis/epidemiology, Cystic Fibrosis/genetics, Cystic Fibrosis/psychology, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Female, Genetic Testing/methods, Humans, Infant, Newborn, Male, Needs Assessment, Neonatal Screening/organization & administration, Neonatal Screening/psychology, Neonatal Screening/standards, Parents/psychology, Perinatal Care/methods, Perinatal Care/organization & administration, Pregnancy, Surveys and Questionnaires, Switzerland/epidemiology, Cystic fibrosis, False-positives, Newborn screening, Parents
Relation: Journal of Cystic Fibrosis; https://iris.unil.ch/handle/iris/239570; serval:BIB_DE3AB6811BED; 000382350700009
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Nat Rev Endocrinol
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Freson, K, García Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Kottler, M-L, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez de Nanclares, G & Linglart, A 2018, 'Diagnosis and management of pseudohypoparathyroidism and related disorders : first international Consensus Statement', Nature Reviews. Endocrinology, vol. 14, no. 8, pp. 476-500. https://doi.org/10.1038/s41574-018-0042-0
Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Freson, K, García Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Kottler, M-L, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez de Nanclares, G & Linglart, A 2018, 'Diagnosis and management of pseudohypoparathyroidism and related disorders : first international Consensus Statement', Nature Reviews Endocrinology, vol. 14, no. 8, pp. 476-500. https://doi.org/10.1038/s41574-018-0042-0
Nature reviews / Endocrinology 14(8), 476-500 (2018). doi:10.1038/s41574-018-0042-0Schlagwörter: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Endocrinology, Delayed Diagnosis, Drug Resistance, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Risk Assessment, STIMULATORY G-PROTEIN, Pseudohypoparathyroidism/diagnosis, Neonatal Screening/organization & administration, 0302 clinical medicine, MESH: Practice Guidelines as Topic, Program Development, BRACHYDACTYLY TYPE-E, PARATHYROID-HORMONE RESISTANCE, Disorders, IMPRINTING CONTROL ELEMENT, MESH: Pseudohypoparathyroidism, MESH: Genetic Predisposition to Disease, Prognosis, MESH: Infant, General medicine, internal medicine and other clinical medicine, 3. Good health, MESH: Parathyroid Hormone, IDENTIFIES PDE4D MUTATIONS, NUCLEOTIDE REGULATORY PROTEIN, Parathyroid Hormone, Consensus statement, Pseudohypoparathyroidism, Practice Guidelines as Topic, MESH: Drug Resistance, Female, Parathyroid Hormone/therapeutic use, Life Sciences & Biomedicine, Delayed Diagnosis/adverse effects, Consensus, Medicina, PROGRESSIVE OSSEOUS HETEROPLASIA, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, PATERNAL UNIPARENTAL DISOMY, Risk Assessment, MESH: Prognosis, GNAS INACTIVATING MUTATIONS, Endocrinology & Metabolism, 03 medical and health sciences, Neonatal Screening, BECKWITH-WIEDEMANN SYNDROME, MESH: Program Development, Humans, Genetic Predisposition to Disease, MESH: Consensus, MESH: Neonatal Screening, [SDV.GEN]Life Sciences [q-bio]/Genetics, GS-ALPHA-GENE, MESH: Humans, Science & Technology, ALBRIGHT HEREDITARY OSTEODYSTROPHY, 3202 Clinical sciences, Consensus Statement, Infant, Newborn, Infant, Newborn, MESH: Male, MESH: Delayed Diagnosis, EMC MM-01-39-02, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Diagnosis and management, DEPENDENT PROBE AMPLIFICATION, EMC MM-01-39-09-A, MESH: Female
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.nature.com/articles/s41574-018-0042-0.pdf
https://air.unimi.it/bitstream/2434/613760/2/2018%20PHP%20consensus.pdf
https://pubmed.ncbi.nlm.nih.gov/29959430
http://hdl.handle.net/10486/685143
https://hdl.handle.net/20.500.12530/36212
https://eprints.gla.ac.uk/165195/1/165195.pdf
https://research.manchester.ac.uk/en/publications/518fece1-a250-464c-9a7a-6d4c9874c57c
https://doi.org/10.1038/s41574-018-0042-0
https://pure.eur.nl/en/publications/9020a788-141e-4a6b-aaf1-8731a7210a54
https://doi.org/10.1038/s41574-018-0042-0
https://www.nature.com/articles/s41574-018-0042-0.pdf
https://hal.archives-ouvertes.fr/hal-02392788
https://repub.eur.nl/pub/109112/
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3008491
https://repositorio.uam.es/handle/10486/685143
http://europepmc.org/abstract/MED/29959430
https://www.endocrine-abstracts.org/ea/0056/ea0056gp175
https://hdl.handle.net/1887/122749
https://lirias.kuleuven.be/handle/123456789/625651
https://doi.org/10.1038/s41574-018-0042-0
https://hdl.handle.net/2434/613760
https://doi.org/10.1038/s41574-018-0042-0
http://hdl.handle.net/10138/237441
https://pure.au.dk/ws/files/167612861/s41574_018_0042_0.pdf
https://hdl.handle.net/11424/242266
https://hal.science/hal-02392788v1
https://doi.org/10.1038/s41574-018-0042-0
http://www.scopus.com/inward/record.url?scp=85049131329&partnerID=8YFLogxK
https://research.manchester.ac.uk/en/publications/518fece1-a250-464c-9a7a-6d4c9874c57c
https://doi.org/10.1038/s41574-018-0042-0
https://pure.manchester.ac.uk/ws/files/182815424/s41574_018_0042_0_1_.pdf
https://publications.rwth-aachen.de/record/757151
https://hdl.handle.net/2318/1680489
https://doi.org/10.1038/s41574-018-0042-0
http://www.nature.com/nrendo/index.html
http://www.scopus.com/inward/record.url?scp=85049131329&partnerID=8YFLogxK
https://pure.au.dk/ws/files/167612861/s41574_018_0042_0.pdf
https://doi.org/10.1038/s41574-018-0042-0
https://pure.au.dk/portal/en/publications/7b1868c6-524e-42cb-9f09-f80375b74719 -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: ISSN: 0022-3476 ; The journal of pediatrics, vol. 239 (2021) p. 231-234.e2.
Schlagwörter: info:eu-repo/classification/ddc/618, NBS, Immigrant, Late diagnosis, Phenylketonuria, Refugee, Adolescent, Adult, Child, Preschool, Delayed Diagnosis / statistics & numerical data, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility / organization & administration, Health Services Accessibility / statistics & numerical data, Humans, Infant, Newborn, Male, Neonatal Screening / organization & administration, Neonatal Screening / trends, Phenylketonurias / diagnosis, Young Adult
Relation: info:eu-repo/semantics/altIdentifier/pmid/34474089; unige:176424
Verfügbarkeit: https://archive-ouverte.unige.ch/unige:176424
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Journal of Pediatrics, 239, pp. 231-234.e2
The Journal of pediatrics, vol. 239, pp. 231-234.e2Schlagwörter: health care delivery, Male, family, Delayed Diagnosis, phenylalanine, Study Group on Missed PKU and Missed to Follow-Up, NBS, immigrant, late diagnosis, phenylketonuria, refugee, health care survey, 1106 Human Movement and Sports Sciences, global health, Genetics & genetic processes, CHILDREN, Global Health, preschool child, Pediatrics, Health Services Accessibility, Health Services Accessibility / statistics & numerical data, Génétique & processus génétiques, 0302 clinical medicine, newborn, Phenylketonurias, Phenylketonuria, Neonatal Screening / trends, organization and management, LATE-DIAGNOSED PHENYLKETONURIA, delayed diagnosis, Child, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, child, adult, Health Policy, Pacific islands, symptom, Life sciences, Health Services Accessibility / organization & administration, health survey, 3. Good health, [SDV] Life Sciences [q-bio], developmental delay, Europe, Delayed Diagnosis / statistics & numerical data, female, health care policy, PKU, Child, Preschool, Sciences du vivant, NBS, immigrant, late diagnosis, phenylketonuria, refugee, health program, young adult, Female, Life Sciences & Biomedicine, Immigrant, Adult, Refugee, Adolescent, patient referral, autism, Emigrants and Immigrants, Article, Syrian Arab Republic, Young Adult, 03 medical and health sciences, Neonatal Screening, male, missed diagnosis, inborn error of metabolism, MANAGEMENT, false negative result, Humans, human, Neonatal Screening / organization & administration, Science & Technology, newborn screening, questionnaire, asymptomatic disease, Infant, Newborn, Infant, ADULTS, infant, major clinical study, 3213 Paediatrics, Late diagnosis, Phenylketonurias / diagnosis, migrant, adolescent, Health Care Surveys, North America, epilepsy, 1114 Paediatrics and Reproductive Medicine, Gastroenterology - Radboud University Medical Center
Dateibeschreibung: application/pdf; application/zip
Zugangs-URL: http://www.jpeds.com/article/S0022347621008556/pdf
https://pubmed.ncbi.nlm.nih.gov/34474089
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244721
https://doi.org/10.1016/j.jpeds.2021.08.070
https://pure.eur.nl/en/publications/69e85643-a73c-40d0-a8b3-bd915b230a69
https://doi.org/10.1016/j.jpeds.2021.08.070
https://hdl.handle.net/11370/f1f2ede2-d01d-4f76-aaf6-196c8147a9ab
https://research.rug.nl/en/publications/f1f2ede2-d01d-4f76-aaf6-196c8147a9ab
https://doi.org/10.1016/j.jpeds.2021.08.070
https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1349/
https://discovery.ucl.ac.uk/id/eprint/10138441/
https://investigacion.usc.es/documentos/618f9d7e4fa218568b4db1de
https://pubmed.ncbi.nlm.nih.gov/34474089/
https://www.ncbi.nlm.nih.gov/pubmed/34474089
https://doi.org/10.1016/j.jpeds.2021.08.070
https://lirias.kuleuven.be/handle/20.500.12942/687343
https://doi.org/10.1016/j.jpeds.2021.08.070
https://hdl.handle.net/2066/244721
https://repository.ubn.ru.nl//bitstream/handle/2066/244721/244721.pdf
https://serval.unil.ch/resource/serval:BIB_88FE7A47B322.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_88FE7A47B322
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_88FE7A47B3224
https://univ-paris8.hal.science/hal-04943212v1/document
https://doi.org/10.1016/j.jpeds.2021.08.070
https://univ-paris8.hal.science/hal-04943212v1
https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext
https://hdl.handle.net/11585/928082
https://doi.org/10.1016/j.jpeds.2021.08.070
https://discovery-pp.ucl.ac.uk/id/eprint/10138441/ -
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Autoren:
Quelle: Hawaii medical journal. 64(9)
Schlagwörter: Attitude of Health Personnel, Infant, Newborn, Infant, Newborn, Infections, Metabolic Diseases/diagnosis, Hawaii, 3. Good health, Infection/diagnosis/metabolism, Neonatal Screening/organization & administration, Obstetrics, 03 medical and health sciences, Metabolism, 0302 clinical medicine, Neonatal Screening, Metabolic Diseases, Patient Education as Topic, Humans, Clinical Competence, Inborn Errors/diagnosis, Physician's Role, Metabolism, Inborn Errors
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/16274162
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Autoren: et al.
Quelle: Pediatrics Faculty Publications
Schlagwörter: Health Plan Implementation--organization & administration, Heart Defects, Congenital--diagnosis, Neonatal Screening--organization & administration, Pediatrics
Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/263; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=23776113
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