Search Results - "HAE II CHEONG"

Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease by Sevignani, Gabriela, Pavanelli, Giovana Memari, Milano, Sibele Sauzem, Ferronato, Bianca Ramos, Pachaly, Maria Aparecida, Ii Cheong, Hae, Carvalho, Mauricio de, Barreto, Fellype Carvalho

“…MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome…”
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A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus by Bircan, Zelal, Karacayir, Nihal, II Cheong, Hae

“…Autosomal recessive nephrogenic diabetes insipidus (ARNDI) is a rare disease usually seen in patients with consanguineous parents. We report on a case of ARNDI…”
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Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension by Briot, Karine, Portale, Anthony A, Brandi, Maria Luisa, Carpenter, Thomas O, Cheong, Hae Ii, Cohen-Solal, Martine, Crowley, Rachel K, Eastell, Richard, Imanishi, Yasuo, Ing, Steven, Insogna, Karl, Ito, Nobuaki, Jan de Beur, Suzanne, Javaid, Muhammad K, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H, Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J, Yoo, Han-Wook, Nixon, Annabel, Nixon, Mark, Sun, Wei, Williams, Angela, Imel, Erik A

“…ObjectivesTo report the impact of burosumab on patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia (XLH) through…”
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Features of Autosomal Recessive Alport Syndrome: A Systematic Review by Lee, Jiwon M, Nozu, Kandai, Choi, Dae Eun, Kang, Hee Gyung, Ha, Ii-Soo, Cheong, Hae Ii

“…Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the…”
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Hepatorenal fibrocystic diseases in children by Park, Eujin, Lee, Jiwon M., Ahn, Yo Han, Kang, Hee Gyung, Ha, II Soo, Lee, Joo Hoon, Park, Young Seo, Kim, Nayoung K. D., Park, Woong-Yang, Cheong, Hae II

“…Background Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and…”
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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature by Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae Ii, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta

“…Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially,…”
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Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period by Portale, Anthony A., Carpenter, Thomas O., Brandi, Maria Luisa, Briot, Karine, Cheong, Hae II, Cohen-Solal, Martine, Crowley, Rachel, Jan De Beur, Suzanne, Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven, Ito, Nobuaki, Javaid, Muhammad, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H., Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Zhang, Lin, Theodore-Oklota, Christina, Mealiffe, Matt, San Martin, Javier, Insogna, Karl

“…Burosumab, a fully human monoclonal antibody to FGF23, is the only approved treatment for X-linked hypophosphatemia (XLH), a rare genetic disorder…”
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Acute Kidney Injury in Pediatric Cancer Patients by Park, Peong Gang, Hong, Che Ry, Kang, Eunjeong, Park, Minsu, Lee, Hajeong, Kang, Hyoung Jin, Shin, Hee Young, Ha, Il-Soo, Cheong, Hae Il, Yoon, Hyung Jin, Kang, Hee Gyung

“…To analyze the incidence of acute kidney injury (AKI) in the first year after cancer diagnosis in children and to evaluate the short-term and long-term effects…”
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The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε by Azukaitis, Karolis, Simkova, Eva, Majid, Mohammad Abdul, Galiano, Matthias, Benz, Kerstin, Amann, Kerstin, Bockmeyer, Clemens, Gajjar, Radha, Meyers, Kevin E, Cheong, Hae Il, Lange-Sperandio, Bärbel, Jungraithmayr, Therese, Frémeaux-Bacchi, Véronique, Bergmann, Carsten, Bereczki, Csaba, Miklaszewska, Monika, Csuka, Dorottya, Prohászka, Zoltán, Killen, Paul, Gipson, Patrick, Sampson, Matthew G, Lemaire, Mathieu, Schaefer, Franz

“…The recent discovery of mutations in the gene encoding diacylglycerol kinase (DGKE) identified a novel pathophysiologic mechanism leading to HUS and/or MPGN…”
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Early recurrent nephrotic syndrome after renal transplantation in children with focal segmental glomerulosclerosis by Cheong, Hae Ii, Han, Hye Won, Park, Hye Won, Ha, Ii Soo, Han, Kyu Sup, Lee, Hyun Soon, Kim, Sang Joon, Choi, Yong

“…Background. We analysed risk factors to predict the recurrence of nephrotic syndrome and the therapeutic efficacy of plasmapheresis combined with oral…”
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Dent-2 Disease: A Mild Variant of Lowe Syndrome by Bökenkamp, Arend, MD, PhD, Böckenhauer, Detlef, MD, PhD, Cheong, Hae Il, MD, PhD, Hoppe, Bernd, MD, PhD, Tasic, Velibor, MD, Unwin, Robert, MD, PhD, Ludwig, Michael, PhD

“…Objective To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. Study design Chart…”
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Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney by Lee, Jiwon M., Ahn, Yo Han, Kang, Hee Gyung, Ha, II Soo, Lee, Kyoungbun, Moon, Kyung Chul, Lee, Joo Hoon, Park, Young Seo, Cho, Yong Mee, Bae, Jun-Seok, Kim, Nayoung K. D., Park, Woong-Yang, Cheong, Hae II

“…Background Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex…”
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Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period by Ward, Leanne M, Högler, Wolfgang, Glorieux, Francis H, Portale, Anthony A, Whyte, Michael P, Munns, Craig F, Nilsson, Ola, Simmons, Jill H, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Sochett, Etienne, Muroya, Koji, Tanaka, Hiroyuki, Pitukcheewanont, Pisit, Gottesman, Gary S, Biggin, Andrew, Perwad, Farzana, Chen, Angel, Lawrence Merritt Ii, John, Imel, Erik A

“…In a randomized, open-label phase 3 study of 61 children aged 1-12 years old with X-linked hypophosphatemia (XLH) previously treated with conventional therapy,…”
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Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome by Cho, Young Hoon, Hyun, Hye Sun, Park, Eujin, Moon, Kyung Chul, Min, Sang-Il, Ha, Jongwon, Ha, Il-Soo, Cheong, Hae Il, Ahn, Yo Han, Kang, Hee Gyung

“…A retrospective review was performed to assess the risk factors and outcomes of BK virus infection and nephropathy (BKVN), an early complication in pediatric…”
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A familial case of Blau syndrome caused by a novel NOD2 genetic mutation by Kim, Woojoong, Park, Eujin, Ahn, Yo Han, Lee, Jiwon M, Kang, Hee Gyung, Kim, Byung Joo, Ha, Il-Soo, Cheong, Hae Il

“…Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric…”
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Translational read-through of a nonsense mutation causing Bartter syndrome by Cho, Hee Yeon, Lee, Beom Hee, Cheong, Hae Il

“…Bartter syndrome (BS) is classified into 5 genotypes according to underlying mutant genes and BS III is caused by loss-of-function mutations in the CLCNKB gene…”
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Clinical features of anti-FH auto antibodies-associated HUS: A typical onset but an atypical outcome by Dragon-Durey, Marie-Agnès, Sethi, Sidarth Kumar, Bagga, Arvind, Blanc, Caroline, Blouin, Jacques, Ranchin, Bruno, André, Jean-Luc, Takagi, Nobuaki, Cheong, Hae II, Hari, Pankaj, Le Quintrec, Moglie, Niaudet, Patrick, Loirat, Chantal, Fridman, Wolf Herman, Frémeaux-Bacchi, Véronique

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Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome by Chang, Hye Jin, Kim, Hwa Young, Choi, Jae Hong, Choi, Hyun Jin, Ko, Jae Sung, Ha, Il Soo, Cheong, Hae Il, Choi, Yong, Kang, Hee Gyung

“…Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who…”
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Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome by DRAGON-DUREY, Marie-Agnès, SIDHARTH KUMAR SETHI, LE QUINTREC, Moglie, NIAUDET, Patrick, LOIRAT, Chantal, HERMAN FRIDMAN, Wolf, FREMEAUX-BACCHI, Véronique, BAGGA, Arvind, BLANC, Caroline, BLOUIN, Jacques, RANCHIN, Bruno, ANDRE, Jean-Luc, TAKAGI, Nobuaki, HAE II CHEONG, HARI, Pankaj

“…Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders…”
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Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation by Cheong, H I, Chae, J H, Kim, J S, Park, H W, Ha, I S, Hwang, Y S, Lee, H S, Choi, Y

“…Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial DNA, which is known to be associated with…”
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