Search details
1.
Congenital erythropoietic porphyria.
Liver Int
; 2024 May 08.
Article
in English
| MEDLINE | ID: mdl-38717058
2.
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
J Am Acad Dermatol
; 89(6): 1227-1237, 2023 12.
Article
in English
| MEDLINE | ID: mdl-36041558
3.
Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.
Dig Dis Sci
; 68(5): 2107-2114, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36380150
4.
Integration of a pharmacist-led pharmacogenomic service in a geriatric clinic: Barriers and outcomes.
J Am Pharm Assoc (2003)
; 63(3): 778-784, 2023.
Article
in English
| MEDLINE | ID: mdl-36774236
5.
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
Hepatology
; 73(5): 1736-1746, 2021 05.
Article
in English
| MEDLINE | ID: mdl-32681675
6.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33565190
7.
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
Hepatology
; 79(3): 731-743, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-37505211
8.
Congenital erythropoietic porphyria: Recent advances.
Mol Genet Metab
; 128(3): 288-297, 2019 11.
Article
in English
| MEDLINE | ID: mdl-30685241
9.
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
J Inherit Metab Dis
; 42(1): 186-194, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740734
10.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30055086
11.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Mol Med
; 21: 487-95, 2015 Jun 05.
Article
in English
| MEDLINE | ID: mdl-26062020
12.
Porphyrias in the Age of Targeted Therapies.
Diagnostics (Basel)
; 11(10)2021 Sep 29.
Article
in English
| MEDLINE | ID: mdl-34679493
13.
Higher iron stores and the HFE 187C>G variant delay onset of peripheral neuropathy during combination antiretroviral therapy.
PLoS One
; 15(10): e0239758, 2020.
Article
in English
| MEDLINE | ID: mdl-33057367
14.
Pharmacogenomics: An evolving clinical tool for precision medicine.
Cleve Clin J Med
; 87(2): 91-99, 2020 02.
Article
in English
| MEDLINE | ID: mdl-32015062
15.
Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".
Case Rep Genet
; 2019: 4361630, 2019.
Article
in English
| MEDLINE | ID: mdl-31871800
16.
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.
Case Rep Genet
; 2019: 5384295, 2019.
Article
in English
| MEDLINE | ID: mdl-31428485
17.
The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.
Therap Adv Gastroenterol
; 10(7): 553-562, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28804516
Results
1 -
17
de 17
1
Next >
>>