Found: 9
Select item for more details and to access through your institution.
Clinical benefits of introducing real-time multiplex PCR for cerebrospinal fluid as routine diagnostic at a tertiary care pediatric center.
- Published in:
- Infection, 2019, v. 47, n. 1, p. 51, doi. 10.1007/s15010-018-1212-7
- By:
- Publication type:
- Article
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 7, p. 1269, doi. 10.1007/s00467-018-3961-z
- By:
- Publication type:
- Article
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2039, doi. 10.1093/hmg/ddq085
- By:
- Publication type:
- Article
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Letter
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 421, doi. 10.1007/s10875-019-00728-y
- By:
- Publication type:
- Article
Comparison of antibiotic and acyclovir usage before and after the implementation of an on-site FilmArray meningitis/encephalitis panel in an academic tertiary pediatric hospital: a retrospective observational study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Acute Flaccid Myelitis in German Children in 2016--the Return of Polio?
- Published in:
- Deutsches Ärzteblatt International, 2017, v. 114, n. 33/34, p. 551, doi. 10.3238/arztebl.2017.0551
- By:
- Publication type:
- Article
Venetoclax and decitabine for relapsed paediatric myelodysplastic syndrome‐related acute myeloid leukaemia with complex aberrant karyotype after second stem cell transplantation.
- Published in:
- British Journal of Haematology, 2020, v. 189, n. 6, p. e251, doi. 10.1111/bjh.16682
- By:
- Publication type:
- Article
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1732, doi. 10.1093/hmg/ddy079
- By:
- Publication type:
- Article