Results 91 to 100 of about 5,205 (214)

Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report

Case Reports in Nephrology and Dialysis, 2018
Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme.
Asma Hasan, Sharon Maynard, Dominick Santoriello, Henry Schairer   +3 more
doaj   +1 more source

Skeletal features of primary hyperoxaluria type 1, revisited

Journal of Children's Orthopaedics, 2008
Purpose The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. Methods We clinically and radiographically reviewed 12 consecutive patients diagnosed with
Samer El Hage, Ismat Ghanem, André Baradhi, Chebel Mourani, Samir Mallat, Fernand Dagher, Khalil Kharrat   +6 more
doaj   +1 more source

Primary hyperoxaluria [PDF]

Journal of the Royal Society of Medicine, 1980
P F, O'Regan, A M, Joekes
openaire   +2 more sources

Primary Hyperoxaluria type 1 – Two Case Reports

, 2020
Primary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diagnosis.
Amorim, M, Ganhão, I, Nobre, S, Cardoso, D, Abranches, M, Braga da Cruz, M, Borges, C, Francisco, T   +7 more
core  

Primary hyperoxaluria [PDF]

Biochemical Journal, 1971
openaire   +4 more sources

Tasic V. Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol

, 2020
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria
Velibor Tasic, Nenad Blau, Goce Spasovski, B Beck, Bernd Hoppe, • Bodo   +5 more
core  

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1

Kidney International Reports
Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied.
Lisa J. Deesker, Hazal A. Karacoban, Elisabeth L. Metry, Sander F. Garrelfs, Justine Bacchetta, Olivia Boyer, Laure Collard, Arnaud Devresse, Wesley Hayes, Sally-Anne Hulton, Cristina Martin-Higueras, Shabbir H. Moochhala, Thomas J. Neuhaus, Jun Oh, Larisa Prikhodina, Przemyslaw Sikora, Michiel J.S. Oosterveld, Jaap W. Groothoff, Giorgia Mandrile, Bodo B. Beck   +19 more
doaj   +1 more source

Primary Hyperoxaluria

Annals of the Academy of Medicine, Singapore, 2010
Niranjan, Khandelwal, Kushaljit Singh, Sodhi, Vivek, Virmani, Navneet, Sharma   +3 more
openaire   +3 more sources

Primary hyperoxaluria type 1 with a novel mutation

, 2009
Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene.
Sharma, Sonika, Sethi, Sidharth Kumar, Waterham, Hans R., Hari, Pankaj, Sharma, Alok, Bagga, Arvind   +5 more
core   +1 more source

The Aetiology of Primary Hyperoxaluria [PDF]

BMJ, 1958
H E, ARCHER, A E, DORMER, E F, SCOWEN, R W, WATTS   +3 more
openaire   +2 more sources