Results 161 to 170 of about 2,262,684 (231)

The oculocerebrorenal syndrome of Lowe: an update [PDF]

, 2016

core   +1 more source

A RARE CASE: A CASE OF KLINEFELTER SYNDROME DEVELOPING FANCONI APLASTIC ANEMIA

, 2022
Hüseyin Tokgöz, Ümran Çalışkan, Tuğçe Duran, Kaniye Zeynep ÇALIŞKAN SAK   +3 more
openalex   +1 more source

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome [PDF]

, 2019
Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud   +11 more
openalex   +1 more source

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Human Molecular Genetics, 2016
H. Hartmannová, L. Piherová, K. Tauchmannová, K. Kidd, P. Acott, J. Crocker, Youcef Oussedik, M. Mallet, K. Hodaňová, V. Stránecký, A. Přistoupilová, V. Barešová, Ivana Jedličková, Martina Živná, J. Sovová, H. Hulkova, Victoria C. Robins, M. Vrbacký, P. Pecina, V. Kaplanová, J. Houštěk, T. Mráček, Y. Thibeault, A. Bleyer, S. Kmoch   +24 more
semanticscholar   +1 more source

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome. [PDF]

Genes (Basel)
Farias FHG, Mhlanga-Mutangadura T, Guo J, Hansen L, Johnson GS, Katz ML.   +5 more
europepmc   +1 more source

Impaired Lysosomal Function Underlies Monoclonal Light Chain-Associated Renal Fanconi Syndrome.

Journal of the American Society of Nephrology, 2016
A. Luciani, C. Sirac, Sara Terryn, V. Javaugue, J. Prange, S. Bender, A. Bonaud, M. Cogné, P. Aucouturier, P. Ronco, F. Bridoux, O. Devuyst   +11 more
semanticscholar   +1 more source

Acute Kidney Injury and Fanconi Syndrome Caused by a Red Yeast Rice Supplement. [PDF]

Intern Med
Doi T, Shimizu A, Morimoto E, Morii K, Okubo A, Mizuiri S, Nishizawa Y, Masaki T.   +7 more
europepmc   +1 more source

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A

Cell Reports, 2019
Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler, K. Grand, E. Klootwijk, Anne Kesselheim, R. Kleta, S. Lienkamp, M. Simons   +9 more
semanticscholar   +1 more source

Deferasirox-induced hyperammonemia and Fanconi syndrome: a case report. [PDF]

Front Pediatr
Zhou H, Xiong D, Feng Y, Jiang J.
europepmc   +1 more source

Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. [PDF]

Intern Med, 2023
Katsunuma R, Mitsumoto K, Mizumoto A, Hirai Y, Nakauchi C, Uzu T.   +5 more
europepmc   +1 more source