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Journal of Inherited Metabolic DiseaseVolume 47, Issue 3, May 2024, Pages 413-416

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals(Letter)

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  • aLil’ Brave one (Hrabrisa), Novi Sad, Serbia
  • bDTDS Foundation, Fort Wayne, IN, United States
  • cDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
  • dDivision of Child Neurology and Metabolic Disorders, University Children's Hospital Heidelberg, Heidelberg, Germany
  • eThe AADC Research Trust, Caterham, United Kingdom

Abstract

[No abstract available]

Indexed keywords

EMTREE medical terms:aromatic L-amino acid decarboxylase deficiencyblood samplingcaregivercerebral palsycerebrospinal fluid analysischildclinical articleclinical featureclinical outcomecontrolled studydelayed diagnosisdevelopmental delaydiagnostic accuracydiagnostic approach routediagnostic errordiagnostic proceduredifferential diagnosisdisease coursedopamine transporter deficiency syndromeenzyme assayepilepsyexperiencefeedback systemgeneral practitionergenetic screeninghealth care accesshealth care personnelhigh throughput sequencinghumaninborn error of neurotransmitter metabolisminfantintrospectionLettermedical expertmedical specialistneurometabolic disordernewborn screeningonset agepatient advocacypatient referralpreschool childprofessional knowledgequestionnaireSanger sequencingsuccinic semialdehyde dehydrogenase deficiencytyrosine hydroxylase deficiencyurine samplingwhole genome sequencingmetabolismrare disease
EMTREE drug terms:agents interacting with transmitter, hormone or drug receptors
MeSH:Health PersonnelHumansNeurotransmitter AgentsRare Diseases
  • ISSN: 01418955
  • CODEN: JIMDD
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1002/jimd.12675
  • PubMed ID: 37622614
  • Document Type: Letter
  • Publisher: John Wiley and Sons Inc

  Badnjarevic, I.; Lil’ Brave one (Hrabrisa), Novi Sad, Serbia;
© Copyright 2024 Elsevier B.V., All rights reserved.

Cited by 3 documents

Opladen, T. , Bertoldi, M.
Neurotransmitters … it is all about communication!
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Reischl-Hajiabadi, A.T. , Okun, J.G. , Kohlmüller, D.
Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
(2024) Molecular Genetics and Metabolism
Rizzi, S. , Spagnoli, C. , Bellini, M.
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders
(2023) Genes
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