Detalhe da pesquisa
1.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
2.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857854
3.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
J Inherit Metab Dis
; 46(6): 1043-1062, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603033
4.
[Thrombotic Microangiopathy (TMA) after Gene Replacemant Therapy (GRT) due to Spinal Muscular Atrophy: Case Summary and Recommendations for Treatment]. / Thrombotische Mikroangiopathie (TMA) nach Genersatztherapie (GRT) bei spinaler Muskelatrophie: Ein Fallbericht und Therapieoption.
Klin Padiatr
; 234(1): 42-47, 2022 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-34388834
5.
Comprehensive analysis of the L-arginine/L-homoarginine/nitric oxide pathway in preterm neonates: potential roles for homoarginine and asymmetric dimethylarginine in foetal growth.
Amino Acids
; 49(4): 783-794, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28161799
6.
Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up.
Neuropediatrics
; 47(5): 308-17, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299367
7.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
8.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
9.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
J Neuromuscul Dis
; 10(1): 55-65, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36463459
10.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407264
11.
Increased asymmetric dimethylarginine (ADMA) dimethylaminohydrolase (DDAH) activity in childhood hypercholesterolemia type II.
Amino Acids
; 43(2): 805-11, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22075968
12.
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Amino Acids
; 42(5): 1765-72, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21472412
13.
Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential.
Klin Padiatr
; 229(6): e1, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30562813
14.
Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential.
Klin Padiatr
; 229(6): 355-357, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29132166
15.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Lancet Child Adolesc Health
; 6(1): 17-27, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756190
16.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274155
17.
Cyclosporine A: impact on mitochondrial function in endothelial cells.
Clin Transplant
; 25(4): 584-93, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20633034
18.
Energy metabolism in umbilical endothelial cells from preterm and term neonates.
J Perinat Med
; 39(5): 587-93, 2011 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21867455
19.
Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia.
Leukemia
; 35(9): 2650-2657, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33714975
20.
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
IUBMB Life
; 62(6): 403-13, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503433