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1.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37429829
2.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33496032
3.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33274439
4.
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr
; 215: 152-157.e3, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31761138
5.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29665094
6.
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Am J Med Genet A
; 179(4): 588-594, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30793471
7.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 19300, 2021 09 29.
Article
in English
| MEDLINE | ID: mdl-34588557
8.
Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults. / Strain-Ultraschallelastografie der Muskulatur bei muskelgesunden Kindern und Erwachsenen.
Rofo
; 191(12): 1091-1098, 2019 Dec.
Article
in English, German
| MEDLINE | ID: mdl-31035300
9.
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Neurol Genet
; 5(6): e373, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-32042906
10.
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Orphanet J Rare Dis
; 11(1): 100, 2016 07 19.
Article
in English
| MEDLINE | ID: mdl-27430971
11.
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 20618, 2021 Oct 12.
Article
in English
| MEDLINE | ID: mdl-34642359
12.
Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography.
Pediatr Radiol
; 35(1): 85-90, 2005 Jan.
Article
in English
| MEDLINE | ID: mdl-15480615
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