Suchergebnisse - "Errors"
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1
Autoren: et al.
Quelle: BMC health services research [BMC Health Serv Res] 2025 Oct 03; Vol. 25 (1), pp. 1296. Date of Electronic Publication: 2025 Oct 03.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101088677 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6963 (Electronic) Linking ISSN: 14726963 NLM ISO Abbreviation: BMC Health Serv Res Subsets: MEDLINE
MeSH-Schlagworte: Hospitals, University* , Diagnostic Errors*/statistics & numerical data , Diagnostic Errors*/prevention & control , Laboratories, Hospital*/standards, Humans ; Retrospective Studies ; China ; Quality Improvement ; Root Cause Analysis ; Female ; Patient Safety ; Risk Management ; Medical Errors
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2
Autoren: et al.
Quelle: Brain & development [Brain Dev] 2025 Oct; Vol. 47 (5), pp. 104420. Date of Electronic Publication: 2025 Aug 20.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE
MeSH-Schlagworte: Metabolism, Inborn Errors*/therapy , Neurotransmitter Agents*/metabolism, Humans ; Male ; Female ; India ; Infant ; Child, Preschool ; Child ; Cohort Studies ; Developmental Disabilities ; Amino Acid Metabolism, Inborn Errors ; Aromatic-L-Amino-Acid Decarboxylases/deficiency ; Dystonia ; Dystonic Disorders
SCR Disease Name: Aromatic amino acid decarboxylase deficiency
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3
Autoren: et al.
Quelle: The British journal of general practice : the journal of the Royal College of General Practitioners [Br J Gen Pract] 2025 Aug 28; Vol. 75 (758), pp. e607-e617. Date of Electronic Publication: 2025 Aug 28 (Print Publication: 2025).
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Royal College of General Practitioners Country of Publication: England NLM ID: 9005323 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1478-5242 (Electronic) Linking ISSN: 09601643 NLM ISO Abbreviation: Br J Gen Pract Subsets: MEDLINE
MeSH-Schlagworte: Patient Safety*/statistics & numerical data , General Practice*/statistics & numerical data , Parents* , Medical Errors*/prevention & control , Medical Errors*/statistics & numerical data, Cross-Sectional Studies ; Medication Errors/prevention & control ; Medication Errors/statistics & numerical data ; Humans ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent
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4
Autoren: et al.
Quelle: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2025 Sep 29; Vol. 38 (12), pp. 1324-1331. Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2025).
Publikationsart: Journal Article; Case Reports
Info zur Zeitschrift: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE
MeSH-Schlagworte: Carnitine O-Palmitoyltransferase*/deficiency , Carnitine O-Palmitoyltransferase*/blood , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/blood , Muscular Diseases*/diagnosis , Muscular Diseases*/blood , Cardiomyopathies*/diagnosis , Cardiomyopathies*/blood, Humans ; Infant, Newborn ; Female ; Male ; Neonatal Screening/methods ; Infant ; Carnitine/blood ; Carnitine/analogs & derivatives ; Dried Blood Spot Testing ; Prognosis ; Follow-Up Studies ; Hypoglycemia ; Lipid Metabolism, Inborn Errors
SCR Disease Name: Carnitine palmitoyl transferase 1A deficiency
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5
Autoren: et al.
Quelle: Internal medicine (Tokyo, Japan) [Intern Med] 2025 Aug 01; Vol. 64 (15), pp. 2375-2381. Date of Electronic Publication: 2025 Feb 01.
Publikationsart: Journal Article; Case Reports
Info zur Zeitschrift: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE
MeSH-Schlagworte: Lung Diseases, Interstitial*/diagnosis , Lung Diseases, Interstitial*/pathology , Lung Diseases, Interstitial*/complications , Lung Diseases, Interstitial*/etiology , Lung Diseases, Interstitial*/drug therapy , Metabolism, Inborn Errors*/complications , Metabolism, Inborn Errors*/diagnosis , Lung*/pathology , Genetic Diseases, Inborn*/complications , Genetic Diseases, Inborn*/diagnosis, Humans ; Male ; Biopsy/methods ; Fatal Outcome ; Adult ; Bronchoscopy/methods ; Indoles/therapeutic use ; Amino Acid Metabolism, Inborn Errors
SCR Disease Name: Lysinuric Protein Intolerance
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6
Uniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.
Autoren:
Quelle: European journal of endocrinology [Eur J Endocrinol] 2025 Jul 31; Vol. 193 (2), pp. K5-K10.
Publikationsart: Journal Article; Case Reports
Info zur Zeitschrift: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE
MeSH-Schlagworte: Uniparental Disomy*/genetics , Receptor, Melanocortin, Type 2*/genetics , Steroid Metabolism, Inborn Errors*/genetics , Steroid Metabolism, Inborn Errors*/diagnosis, Humans ; Female ; Child ; Metabolism, Inborn Errors ; Receptors, Glucocorticoid/deficiency
SCR Disease Name: Glucocorticoid Receptor Deficiency
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7
Autoren: et al.
Quelle: PM & R : the journal of injury, function, and rehabilitation [PM R] 2025 Aug; Vol. 17 (8), pp. 944-951. Date of Electronic Publication: 2025 May 19.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 101491319 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1934-1563 (Electronic) Linking ISSN: 19341482 NLM ISO Abbreviation: PM R Subsets: MEDLINE
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8
Autoren: et al.
Quelle: Journal of medical case reports [J Med Case Rep] 2025 Jun 22; Vol. 19 (1), pp. 291. Date of Electronic Publication: 2025 Jun 22.
Publikationsart: Journal Article; Case Reports
Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE
MeSH-Schlagworte: Carnitine O-Palmitoyltransferase*/deficiency , Carnitine O-Palmitoyltransferase*/genetics , Carnitine O-Palmitoyltransferase*/deficiency , Lipid Metabolism, Inborn Errors*/complications , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/genetics , Rhabdomyolysis*/etiology , Rhabdomyolysis*/diagnosis, Humans ; Infant ; Carnitine/analogs & derivatives ; Carnitine/blood ; Creatine Kinase/blood ; Metabolism, Inborn Errors
SCR Disease Name: Carnitine palmitoyl transferase 2 deficiency
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9
Autoren: et al.
Quelle: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2025 Mar 01; Vol. 47 (2), pp. e96-e98. Date of Electronic Publication: 2025 Jan 30.
Publikationsart: Journal Article; Case Reports
Info zur Zeitschrift: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE
MeSH-Schlagworte: Adenosine Kinase*/deficiency , Adenosine Kinase*/genetics , Mutation* , Anemia, Macrocytic*/etiology , Anemia, Macrocytic*/genetics , Purine-Pyrimidine Metabolism, Inborn Errors*/genetics , Purine-Pyrimidine Metabolism, Inborn Errors*/complications, Humans ; Female ; Child ; Exome Sequencing ; Amino Acid Metabolism, Inborn Errors ; Glycine N-Methyltransferase/deficiency
SCR Disease Name: Hypermethioninemia
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10
Autoren: et al.
Quelle: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12819. Date of Electronic Publication: 2024 Dec 09.
Publikationsart: Journal Article; Research Support, Non-U.S. Gov't
Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
MeSH-Schlagworte: Oxygen Consumption* , Exercise*/physiology , Carnitine*/analogs & derivatives , Carnitine*/blood , Carnitine*/metabolism , Lipid Metabolism, Inborn Errors*/metabolism , Lipid Metabolism, Inborn Errors*/physiopathology, Humans ; Male ; Female ; Retrospective Studies ; Adult ; Adolescent ; Fatty Acids/metabolism ; Follow-Up Studies ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiopathology ; Young Adult ; Carnitine O-Palmitoyltransferase/metabolism ; Carnitine O-Palmitoyltransferase/deficiency ; Oxidation-Reduction ; Child ; Exercise Test ; Middle Aged ; Biomarkers/blood ; Cardiac Output/physiology ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/physiopathology ; Metabolism, Inborn Errors
SCR Disease Name: Carnitine palmitoyl transferase 2 deficiency
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11
Autoren: et al.
Quelle: PeerJ [PeerJ] 2024 Dec 09; Vol. 12, pp. e18173. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: PeerJ Inc Country of Publication: United States NLM ID: 101603425 Publication Model: eCollection Cited Medium: Internet ISSN: 2167-8359 (Electronic) Linking ISSN: 21678359 NLM ISO Abbreviation: PeerJ Subsets: MEDLINE
MeSH-Schlagworte: Neonatal Screening*/methods , Metabolism, Inborn Errors*/genetics , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/epidemiology , Tandem Mass Spectrometry* , Phenylketonurias*/genetics , Phenylketonurias*/diagnosis , Phenylketonurias*/epidemiology, Humans ; Infant, Newborn ; China/epidemiology ; Male ; Female ; Genetic Testing/methods ; High-Throughput Nucleotide Sequencing ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/epidemiology ; Incidence ; Mutation
SCR Disease Name: Methylmalonic acidemia
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12
Autoren: et al.
Quelle: Journal of forensic and legal medicine [J Forensic Leg Med] 2024 Oct; Vol. 107, pp. 102752. Date of Electronic Publication: 2024 Sep 06.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Elsevier Country of Publication: England NLM ID: 101300022 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7487 (Electronic) Linking ISSN: 1752928X NLM ISO Abbreviation: J Forensic Leg Med Subsets: MEDLINE
MeSH-Schlagworte: Malpractice*/statistics & numerical data , Malpractice*/legislation & jurisprudence , Obstetrics*/legislation & jurisprudence , Medical Errors*/legislation & jurisprudence , Medical Errors*/statistics & numerical data , Gynecology*/legislation & jurisprudence, Humans ; Retrospective Studies ; Japan ; Female ; Risk Factors ; Adult ; Diagnostic Errors/legislation & jurisprudence ; Diagnostic Errors/statistics & numerical data ; Pregnancy ; Logistic Models ; Middle Aged
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Autoren: et al.
Quelle: PloS one [PLoS One] 2024 Dec 31; Vol. 19 (12), pp. e0311681. Date of Electronic Publication: 2024 Dec 31 (Print Publication: 2024).
Publikationsart: Journal Article; Multicenter Study
Info zur Zeitschrift: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
MeSH-Schlagworte: Awareness* , Internship and Residency* , Medical Errors*/prevention & control , Medical Errors*/psychology , Patient Safety* , Students, Nursing*/psychology, Adult ; Female ; Humans ; Male ; Young Adult ; Cross-Sectional Studies ; Medication Errors/prevention & control ; Saudi Arabia ; Surveys and Questionnaires
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14
Autoren:
Quelle: South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie [S Afr J Surg] 2024 Dec; Vol. 62 (4), pp. 4-8.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Medpharm Publications Country of Publication: South Africa NLM ID: 2984854R Publication Model: Print Cited Medium: Internet ISSN: 2078-5151 (Electronic) Linking ISSN: 00382361 NLM ISO Abbreviation: S Afr J Surg Subsets: MEDLINE
MeSH-Schlagworte: Medical Errors*/statistics & numerical data , Surgical Procedures, Operative*/adverse effects , Surgery Department, Hospital*/statistics & numerical data , Postoperative Complications*/epidemiology , Postoperative Complications*/etiology, Humans ; Retrospective Studies ; South Africa/epidemiology ; Iatrogenic Disease/epidemiology ; Length of Stay/statistics & numerical data ; Medication Errors/statistics & numerical data ; Female ; Male ; Databases, Factual
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15
Autoren: et al.
Quelle: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.
Publikationsart: Journal Article; Practice Guideline; Systematic Review; Research Support, Non-U.S. Gov't
Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
MeSH-Schlagworte: Metal Metabolism, Inborn Errors*/diagnosis , Metal Metabolism, Inborn Errors*/therapy , Sulfite Oxidase*/deficiency , Sulfite Oxidase*/genetics, Humans ; Infant, Newborn ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/therapy ; Amino Acid Metabolism, Inborn Errors/genetics ; Coenzymes/deficiency ; Consensus ; Metalloproteins/deficiency ; Molybdenum Cofactors ; Pteridines
SCR Disease Name: Molybdenum cofactor deficiency; Sulfite oxidase deficiency
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16
Autoren: et al.
Quelle: International journal of clinical pharmacy [Int J Clin Pharm] 2025 Dec; Vol. 47 (6), pp. 1861-1873. Date of Electronic Publication: 2025 Aug 15.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Springer Country of Publication: Netherlands NLM ID: 101554912 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7711 (Electronic) NLM ISO Abbreviation: Int J Clin Pharm Subsets: MEDLINE
MeSH-Schlagworte: Pharmacists*/psychology , Pharmacists*/standards , Attitude of Health Personnel* , Pharmacy Service, Hospital*/methods , Community Pharmacy Services* , Education, Pharmacy*/methods , Medication Errors*/prevention & control , Medication Errors*/psychology, Humans ; Focus Groups/methods ; Male ; Female ; Adult ; Middle Aged ; Serbia ; Curriculum ; Patient Safety/standards ; Qualitative Research ; Surveys and Questionnaires
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Autoren: et al.
Quelle: BMJ open quality [BMJ Open Qual] 2025 Nov 24; Vol. 14 (4). Date of Electronic Publication: 2025 Nov 24.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101710381 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-6641 (Electronic) Linking ISSN: 23996641 NLM ISO Abbreviation: BMJ Open Qual Subsets: MEDLINE
MeSH-Schlagworte: Diagnostic Errors*/statistics & numerical data , Diagnostic Errors*/classification , Allied Health Personnel*/statistics & numerical data , Allied Health Personnel*/standards , Physicians*/statistics & numerical data , Physicians*/standards , Physicians*/psychology, Humans ; Japan ; Female ; Male ; Adult ; Middle Aged
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Autoren: et al.
Quelle: Industrial health [Ind Health] 2025 Nov 20; Vol. 63 (6), pp. 534-543. Date of Electronic Publication: 2025 May 07.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: National Institute of Industrial Health Country of Publication: Japan NLM ID: 2985065R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1880-8026 (Electronic) Linking ISSN: 00198366 NLM ISO Abbreviation: Ind Health Subsets: MEDLINE
MeSH-Schlagworte: Fatigue*/psychology , Fatigue*/epidemiology , Medical Errors*/statistics & numerical data , Medical Errors*/psychology , Patient Safety* , Sleepiness* , Nursing Staff, Hospital*/psychology , Nurses*/psychology, Humans ; Male ; Cross-Sectional Studies ; Adult ; Iran/epidemiology ; Female ; Middle Aged ; Surveys and Questionnaires
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Autoren:
Quelle: International journal of medical informatics [Int J Med Inform] 2025 Nov; Vol. 203, pp. 105990. Date of Electronic Publication: 2025 May 28.
Publikationsart: Journal Article
Info zur Zeitschrift: Publisher: Elsevier Science Ireland Ltd Country of Publication: Ireland NLM ID: 9711057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8243 (Electronic) Linking ISSN: 13865056 NLM ISO Abbreviation: Int J Med Inform Subsets: MEDLINE
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Autoren: et al.
Quelle: Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) [Ophthalmic Physiol Opt] 2025 Nov; Vol. 45 (7), pp. 1676-1688. Date of Electronic Publication: 2025 Oct 24.
Publikationsart: Journal Article; Randomized Controlled Trial
Info zur Zeitschrift: Publisher: Blackwell Publishers Country of Publication: England NLM ID: 8208839 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1475-1313 (Electronic) Linking ISSN: 02755408 NLM ISO Abbreviation: Ophthalmic Physiol Opt Subsets: MEDLINE
MeSH-Schlagworte: Refraction, Ocular*/physiology , Deep Learning* , Refractive Errors*/physiopathology , Refractive Errors*/diagnosis , Refractive Errors*/therapy , Visual Acuity*, Humans ; Adult ; Male ; Female ; Young Adult ; Middle Aged ; Cross-Over Studies ; Adolescent ; Equipment Design
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