Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
2.
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Neuropediatrics
; 55(2): 140-145, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37846133
3.
Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents' education.
Epilepsy Behav
; 152: 109596, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350362
4.
[Diagnosis and Management of Late-Onset Pompe Disease]. / Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe.
Fortschr Neurol Psychiatr
; 92(1-02): 33-40, 2024 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-37494148
5.
l-Arginine/nitric oxide pathway and oxidative stress in adults with ADHD: Effects of methylphenidate treatment.
Nitric Oxide
; 138-139: 64-69, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392928
6.
Endocannabinergic modulation of central serotonergic activity in healthy human volunteers.
Ann Gen Psychiatry
; 22(1): 11, 2023 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932421
7.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
8.
Altered Left Ventricular Myocardial Deformation in Young Women With Borderline Personality Disorder: An Echocardiographic Study.
Psychosom Med
; 84(5): 581-587, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412514
9.
Impact of lunch with carbohydrates differing in glycemic index on children's cognitive functioning in the late postprandial phase: a randomized crossover study.
Eur J Nutr
; 61(3): 1637-1647, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34902050
10.
Seroconversion rate and socio-economic and ethnic risk factors for SARS-CoV-2 infection in children in a population-based cohort, Germany, June 2020 to February 2021.
Euro Surveill
; 27(37)2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111557
11.
Characterization of the L-Arginine/Nitric Oxide Pathway and Oxidative Stress in Pediatric Patients with Atopic Diseases.
Int J Mol Sci
; 23(4)2022 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216250
12.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Int J Mol Sci
; 23(19)2022 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233322
13.
The role of breastfeeding promotion in German hospitals for exclusive breastfeeding duration.
Matern Child Nutr
; 18(2): e13326, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080138
14.
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?
J Neuroinflammation
; 18(1): 121, 2021 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051804
15.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
16.
Breast-feeding promotion in hospitals and prospective breast-feeding rates during the first year of life in two national surveys 1997-1998 and 2017-2019 in Germany.
Public Health Nutr
; 24(9): 2411-2423, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33722333
17.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
18.
Translation of EU Food Law and Nutrient Reference Values Into Practice: the German Dietary Scheme for the First Year of Life.
J Pediatr Gastroenterol Nutr
; 71(4): 550-556, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32960545
19.
[Huntington's disease with childhood and adolescent onset: course of disease, clinical presentation and diagnostic challenges]. / Zur Huntington-Erkrankung im Kindes- und Jugendalter Erkrankung, klinische Präsentation und Probleme der Diagnostik.
Fortschr Neurol Psychiatr
; 88(10): 661-667, 2020 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-32369858
20.
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis.
BMC Neurol
; 19(1): 345, 2019 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884946