Detalhe da pesquisa
1.
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Mol Genet Metab
; 142(2): 108472, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703411
2.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
3.
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.
Eur J Neurol
; : e16283, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497591
4.
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study.
BMC Pediatr
; 24(1): 81, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279082
5.
Clinical characteristics of children with Borrelia-related peripheral facial palsy and utility of cerebrospinal fluid testing.
Acta Paediatr
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591428
6.
Overuse of EEG and ECG in children with breath-holding spells and its implication for the management of the spells.
Acta Paediatr
; 113(2): 317-326, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37905418
7.
Neurological aspects of human glycosylation disorders.
Annu Rev Neurosci
; 38: 105-25, 2015 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840006
8.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
9.
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation.
Mol Genet Metab
; 138(4): 107562, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023501
10.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
11.
Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.
BMC Pediatr
; 23(1): 329, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386496
12.
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.
J Inherit Metab Dis
; 45(2): 248-263, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34873726
13.
Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting.
Acta Paediatr
; 111(10): 2004-2009, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808896
14.
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.
Acta Paediatr
; 111(12): 2315-2321, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029294
15.
Age- and sex-specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden.
Acta Paediatr
; 110(11): 3069-3076, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310741
16.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
17.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
18.
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
J Inherit Metab Dis
; 42(5): 898-908, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31276219
19.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
20.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382