Detalhe da pesquisa
1.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med;
26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37924258
2.
Coherent photo-thermal noise cancellation in a dual-wavelength optical cavity for narrow-linewidth laser frequency stabilisation.
Opt Express;
32(5): 7276-7288, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38439412
3.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis;
2024 Apr 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38563533
4.
Two years of pegvaliase in Germany: Experiences and best practice recommendations.
Mol Genet Metab;
139(1): 107564, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37086569
5.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis;
46(1): 15-27, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36134599
6.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis;
46(6): 1063-1077, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37429829
7.
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
8.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
J Inherit Metab Dis;
45(6): 1070-1081, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36054426
9.
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
J Dtsch Dermatol Ges;
20(3): 273-277, 2022 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35246941
10.
Das NF1-Mikrodeletions-Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.
J Dtsch Dermatol Ges;
20(3): 273-278, 2022 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35304941
11.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis;
44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33496032
12.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab;
131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33004274
13.
[Hypoglycaemia and seizures in a 32-year-old woman with maple syrup urine disease]. / Hypoglykämien und Krampfanfälle bei einer 32jährigen Patientin mit Ahornsiruperkrankung.
Internist (Berl);
61(3): 321-325, 2020 Mar.
Artigo
em Alemão
| MEDLINE
| ID: mdl-31996976
14.
Chiral modes and directional lasing at exceptional points.
Proc Natl Acad Sci U S A;
113(25): 6845-50, 2016 06 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27274059
15.
Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.
Nephrol Dial Transplant;
33(8): 1362-1372, 2018 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29186537
16.
Impact of the Right Ventricular Sokolow-Lyon Index in Children with Idiopathic Pulmonary Arterial Hypertension.
Pediatr Cardiol;
39(6): 1115-1122, 2018 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29541815
17.
Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.
J Am Soc Nephrol;
27(3): 952-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26185201
18.
NR4A2 and Dystonia with Dopa Responsiveness.
Mov Disord;
36(9): 2203-2204, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34155693
19.
High-bandwidth transfer of phase stability through a fiber frequency comb.
Opt Express;
23(15): 19771-6, 2015 Jul 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26367634
20.
Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch.
J Am Soc Nephrol;
25(4): 837-49, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24556354