Detalhe da pesquisa
1.
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
2.
Epidemiology of inherited epidermolysis bullosa in Germany.
J Eur Acad Dermatol Venereol
; 37(2): 402-410, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196047
3.
Metabolic control during the SARS-CoV-2 lockdown in a large German cohort of pediatric patients with type 1 diabetes: Results from the DPV initiative.
Pediatr Diabetes
; 23(3): 351-361, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084805
4.
Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant.
Eur J Pediatr
; 181(1): 413-418, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355278
5.
Previous diabetic ketoacidosis as a risk factor for recurrence in a large prospective contemporary pediatric cohort: Results from the DPV initiative.
Pediatr Diabetes
; 22(3): 455-462, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33533571
6.
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve-A sibling-controlled case study on the efficacy of lipoprotein apheresis.
J Clin Apher
; 35(3): 163-171, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163632
7.
Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin.
Dermatology
; 235(4): 315-322, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132778
8.
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Prenat Diagn
; 39(9): 796-805, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394555
9.
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
J Hum Genet
; 61(10): 891-897, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27305980
10.
Ketoacidosis in Children and Adolescents With Newly Diagnosed Type 1 Diabetes During the COVID-19 Pandemic in Germany.
JAMA
; 324(8): 801-804, 2020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702751
11.
Metabolic control during the first two years of the COVID-19 pandemic in pediatric patients with type 1 diabetes: results from the German DPV initiative.
Acta Diabetol
; 60(6): 757-766, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36871116
12.
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
J Med Genet
; 48(6): 426-32, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21357618
13.
Frequency of Ketoacidosis at Diagnosis of Pediatric Type 1 Diabetes Associated With Socioeconomic Deprivation and Urbanization: Results From the German Multicenter DPV Registry.
Diabetes Care
; 45(8): 1807-1813, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727029
14.
Defective B cell tolerance checkpoints in systemic lupus erythematosus.
J Exp Med
; 201(5): 703-11, 2005 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-15738055
15.
Systematic evaluation of exertional hyperthermia in children and adolescents with hypohidrotic ectodermal dysplasia: an observational study.
Pediatr Res
; 70(3): 297-301, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21646941
16.
[Is it possible to prevent diabetic ketoacidosis at diagnosis of pediatric type 1 diabetes? Lessons from the COVID-19 pandemic]. / Kann die Ketoacidose bei pädiatrischen Patienten mit Manifestation eines Diabetes mellitus Typ 1 vermieden werden? Lehren aus der COVID-19-Pandemie.
Monatsschr Kinderheilkd
; 169(5): 451-460, 2021.
Artigo
em Alemão
| MEDLINE | ID: mdl-33437098
17.
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic Control.
J Bone Miner Res
; 36(12): 2371-2380, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569646
18.
Human autoantibody silencing by immunoglobulin light chains.
J Exp Med
; 200(2): 191-9, 2004 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-15263026
19.
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Orphanet J Rare Dis
; 15(1): 7, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924237
20.
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.
J Invest Dermatol
; 136(11): 2150-2157, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375110