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Pathological Conditions, Signs and Symptoms

MedGen UID:
21047
•Concept ID:
C0039058
•
Sign or Symptom
Synonym: Symptoms and General Pathology

Definition

Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPathological Conditions, Signs and Symptoms

Professional guidelines

PubMed

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. PMID: 37487700Free PMC Article

Recent clinical studies

Etiology

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. PMID: 37487700Free PMC Article

Diagnosis

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A
J Med Genet 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. PMID: 37586838Free PMC Article
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. PMID: 37487700Free PMC Article

Therapy

Three decades of the Ceylon Medical Journal--analysis using MEDLINE (PubMed).
Mendis K, Solagarchchi I, Weerabaddana C
Ceylon Med J 2005 Mar;50(1):14-7. doi: 10.4038/cmj.v50i1.1583. PMID: 15881558

Prognosis

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. PMID: 37487700Free PMC Article
Three decades of the Ceylon Medical Journal--analysis using MEDLINE (PubMed).
Mendis K, Solagarchchi I, Weerabaddana C
Ceylon Med J 2005 Mar;50(1):14-7. doi: 10.4038/cmj.v50i1.1583. PMID: 15881558

Clinical prediction guides

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M
J Med Genet 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. PMID: 37487700Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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