Detalhe da pesquisa
1.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827528
2.
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
J Inherit Metab Dis
; 42(5): 1008-1018, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194895
3.
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
Int J Mol Sci
; 20(11)2019 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31146325
4.
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
J Clin Immunol
; 37(1): 51-60, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27873105
5.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084283
6.
The ketogenic diet compensates for AGC1 deficiency and improves myelination.
Epilepsia
; 56(11): e176-81, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401995
7.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495354
8.
Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.
Clin Immunol
; 155(1): 74-78, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25217881
9.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Am J Hum Genet
; 89(4): 507-15, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963049
10.
Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.
J Clin Immunol
; 34(4): 514-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610337
11.
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
Blood
; 119(11): 2552-5, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22130802
12.
Epidemiology of lysosomal storage diseases in Sweden.
Acta Paediatr
; 103(12): 1258-63, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274184
13.
Guidelines for newborn screening of primary immunodeficiency diseases.
Curr Opin Hematol
; 20(1): 48-54, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23108220
14.
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia.
Pediatr Allergy Immunol
; 29(4): 453-456, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543351
15.
Costs associated with treatment of severe combined immunodeficiency-rationale for newborn screening in Sweden.
J Allergy Clin Immunol
; 139(5): 1713-1716.e6, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012934
16.
Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold.
Eur J Endocrinol
; 188(6): 536-546, 2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306289
17.
KI, WU, and Merkel cell polyomavirus DNA was not detected in guthrie cards of children who later developed acute lymphoblastic leukemia.
J Pediatr Hematol Oncol
; 34(5): 364-7, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22713707
18.
First Year of TREC-Based National SCID Screening in Sweden.
Int J Neonatal Screen
; 7(3)2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449549
19.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
20.
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Biochim Biophys Acta
; 1787(5): 484-90, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19103152