Natural history of three late-diagnosed classic Galactosemia patients

被引：0

作者：

Quelhas, Dulce ^{[1
,2
,3
]}

Kingma, Sandra D. K. ^{[4
,5
]}

Jonckheere, An I. ^{[5
]}

Smeets-Peels, Claudia S. ^{[6
]}

Gomes, Daniel Costa ^{[7
]}

Duro, Jose ^{[7
]}

Oliveira, Anabela ^{[7
]}

Matthijs, Gert ^{[8
]}

Steinbusch, Laura K. M. ^{[9
]}

Jaeken, Jaak ^{[10
,12
]}

Rivera, Isabel ^{[11
]}

Rubio-Gozalbo, Estela ^{[4
,9
]}

机构：

[1] Ctr Hosp Univ Santo Antonio, Ctr Genet Med, Unidade Bioquim Genet, Porto, Portugal

[2] UP, ICBAS, Unit Multidisciplinary Res Biomed, Porto, Portugal

[3] Ctr Hosp Univ Santo Antonio, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal

[4] Maastricht Univ, Mosakids Childrens Hosp, Med Ctr, Maastricht, Netherlands

[5] Univ Antwerp, Univ Hosp Antwerp, Ctr Metab Dis, Antwerp, Belgium

[6] Stichting Pergamijn, Sittard, Netherlands

[7] Ctr Hosp Univ Lisboa Norte, Ctr Referencia Doencas Hereditarias Metab, Lisbon, Portugal

[8] Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium

[9] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[10] Katholieke Univ Leuven, Ctr Metab Dis, Dept Dev & Regenerat, Woman & Child Unit, Leuven, Belgium

[11] Univ Lisbon, Res Inst Med iMed ULisboa, Fac Pharm, Dept Pharmaceut Sci & Med, Lisbon, Portugal

[12] Univ Hosp Gasthuisberg, Ctr Metab Dis, Herestr 49, B-3000 Leuven, Belgium

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2024年 / 38卷

关键词：

Classic galactosemia; Late diagnosis; Natural history; N-GLYCANS;

D O I：

10.1016/j.ymgmr.2024.101057

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The authors report the natural history of three patients with late -diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late -onset manifestations.

引用

页数：5

共 50 条

[41] NATURAL HISTORY OF PATIENTS DIAGNOSED WITH ASYMPTOMATIC GALLSTONES
Sarvepalli, Shashank
Garber, Ari
Morris-Stiff, Gareth
Gupta, Niyati M.
McMichael, John
Rothberg, Michael
Burke, Carol A.
Rizk, Maged
GASTROENTEROLOGY, 2018, 154 (06) : S162 - S162
[42] Invasive Microsporum canis infection as a presenting complaint of late-diagnosed HIV infection
Xia, Xiu-Jiao
Liu, Ze-Hu
INTERNATIONAL JOURNAL OF STD & AIDS, 2021, 32 (14) : 1358 - 1360
[43] Microscopic Polyangiitis as Etiology for Lung Fibrosis - a Known But Often Late-Diagnosed Cause
Gompelmann, Daniela Rosa
Wenz, Heinrich
Heussel, Claus Peter
Herth, Felix J.
MEDIZINISCHE KLINIK, 2009, 104 (06) : 476 - 479
[44] Levels of Self-representation and Their Sociocognitive Correlates in Late-Diagnosed Autistic Adults
R. L. Moseley
C. H. Liu
N. J. Gregory
P. Smith
S. Baron-Cohen
J. Sui
Journal of Autism and Developmental Disorders, 2022, 52 : 3246 - 3259
[45] Incidence of Late-Diagnosed Hip Dislocation After Universal Clinical Screening in Sweden
Wenger, Daniel
Duppe, Henrik
Nilsson, Jan-Ake
Tiderius, Carl Johan
JAMA NETWORK OPEN, 2019, 2 (11)
[46] WHY ARE THERE STILL MANY LATE-DIAGNOSED CASES OF CDH, AND WHAT CAN BE DONE
PALMEN, K
ACTA ORTHOPAEDICA SCANDINAVICA, 1985, 56 (04): : 353 - 353
[47] Levels of Self-representation and Their Sociocognitive Correlates in Late-Diagnosed Autistic Adults
Moseley, R. L.
Liu, C. H.
Gregory, N. J.
Smith, P.
Baron-Cohen, S.
Sui, J.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2022, 52 (07) : 3246 - 3259
[48] A phenomenological exploration of the occupational identity of late-diagnosed autistic women in the United Kingdom
Lynch, Jessica
Murphy, Angela
Da Cruz, Daniel Cezar
DISCOVER PSYCHOLOGY, 2024, 4 (01):
[49] Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ostrowska, Malgorzata
Komon-Janczara, Elwira
Vogt, Agnieszka
Glibowski, Pawel
ANNALS OF AGRICULTURAL AND ENVIRONMENTAL MEDICINE, 2023, 30 (04) : 779 - 782
[50] NEAR-TOTAL ESOPHAGEAL EXCLUSION IN THE TREATMENT OF LATE-DIAGNOSED ESOPHAGEAL-PERFORATION
OZCELIK, C
INCI, I
OZGEN, G
EREN, N
SCANDINAVIAN JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 1994, 28 (02): : 91 - 93

← 1 2 3 4 5 →