The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.

Morton, Georgina; Thomas, Sophie; Roberts, Pat; Clark, Vivienne; Imrie, Jackie; Morrison, Alexandra

Morton, Georgina; Thomas, Sophie; Roberts, Pat; Clark, Vivienne; Imrie, Jackie; Morrison, Alexandra.

Afiliação

Morton G; ArchAngel MLD Trust, 59 Warwick Square, London, SW1V 2AL, London, UK.
Thomas S; MPS Society, MPS House, Amersham, HP7 9LP, Amersham, UK.
Roberts P; ArchAngel MLD Trust, 59 Warwick Square, London, SW1V 2AL, London, UK.
Clark V; MLD Support Association UK, Floor 5, Amphenol Business Complex, Thanet way, Whitstable, CT5 3SB, Whitstable, UK.
Imrie J; MLD Support Association UK, Floor 5, Amphenol Business Complex, Thanet way, Whitstable, CT5 3SB, Whitstable, UK.
Morrison A; Rare Disease Research Partners (RDRP), MPS House, Amersham, HP7 9LP, Amersham, UK. a.morrison@rd-rp.com.

Orphanet J Rare Dis ; 17(1): 403, 2022 11 03.

Article em En | MEDLINE | ID: mdl-36329444

Assuntos

Leucodistrofia Metacromática; Criança; Recém-Nascido; Humanos; Adolescente; Adulto; Leucodistrofia Metacromática/diagnóstico; Leucodistrofia Metacromática/genética; Cuidadores; Triagem Neonatal; Irlanda; Diagnóstico Tardio; Diagnóstico Precoce; Reino Unido

Palavras-chave

Diagnostic delay; Gene therapy; Inborn errors of metabolism; Metachromatic leukodystrophy (MLD); Newborn screening (NBS)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Leucodistrofia Metacromática Tipo de estudo: Diagnostic_studies / Qualitative_research / Screening_studies Limite: Adolescent / Adult / Child / Humans / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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