Cargando…

Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment

Detalles Bibliográficos
Autores principales:	Wang, Qiao, Cao, Bing-Yan, Su, Chang, Li, Wen-Jing, Gong, Chun-Xiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071453/ https://www.ncbi.nlm.nih.gov/pubmed/30058590 http://dx.doi.org/10.4103/0366-6999.237397

Ejemplares similares

Evaluation of Phosphorylated Urinary Na-Cl Cotransporter Is Potentially Useful in a Patient With Pseudohypoaldosteronism Type II due to Mutation in CUL3
por: Nagahara, Keiko, et al.
Publicado: (2014)

SPAK Deficiency Corrects Pseudohypoaldosteronism II Caused by WNK4 Mutation
por: Chu, Pei-Yi, et al.
Publicado: (2013)

Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene
por: Araki, Yuya, et al.
Publicado: (2015)

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
por: Tsuji, Shoji, et al.
Publicado: (2013)

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
por: Wang, Jian, et al.
Publicado: (2013)

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia
por: Rajpoot, Sudeep K, et al.
Publicado: (2014)

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia
por: Attia, Najya A., et al.
Publicado: (2016)

SUN-184 Pseudohypoaldosteronism Presenting with Salt Wasting Crisis
por: Babar, Ghufran S
Publicado: (2020)

CUL5-SOCS6 complex regulates mTORC2 function by targeting Sin1 for degradation
por: Cui, Binghai, et al.
Publicado: (2019)

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life
por: Etges, Annika, et al.
Publicado: (2022)

Causes of Severe Visual Impairment and Blindness in Schools for the Blind
por: Jin, Hui-Yi, et al.
Publicado: (2018)

A Rare Case of Pseudohypoaldosteronism Type II or Gordon Syndrome
por: Manas, F N U, et al.
Publicado: (2021)

Dermal and Ophthalmic Findings in Pseudohypoaldosteronism
por: Korkut, Sabriye, et al.
Publicado: (2015)

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation
por: Mitani, Marie, et al.
Publicado: (2016)

Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism
por: Szmigielska, Agnieszka
Publicado: (2022)

PMON316 Novel Mutation Causing Pseudohypoaldosteronism Type 1 and Transient Hypercalcemia: A Patient Report
por: Wu, Vickie, et al.
Publicado: (2022)

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism
por: Ceylan, Dilara, et al.
Publicado: (2021)

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
por: Shao, Leping, et al.
Publicado: (2018)

Pseudohypoaldosteronism: case report and discussion of the syndrome.
por: Throckmorton, D. C., et al.
Publicado: (1991)

Hypercalcemia in an Infant With Pseudohypoaldosteronism Type 1
por: Jeng, Henry, et al.
Publicado: (2021)

Neonatal Pseudohypoaldosteronism Type-1 in Japan
por: Fujioka, Kazumichi, et al.
Publicado: (2022)

Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant
por: Babar, Ghufran Saeed, et al.
Publicado: (2022)

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2
por: Morikawa, Shuntaro, et al.
Publicado: (2015)

Errate: Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism
por: Szmigielska, Agnieszka
Publicado: (2023)

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
por: Lee, Se Eun, et al.
Publicado: (2011)

A Chinese girl with Turner syndrome and Duchenne muscular dystrophy: diagnosis and management of this “dual diagnosis”
por: Chen, Jia-Jia, et al.
Publicado: (2021)

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2
por: Goda, Takeshi, et al.
Publicado: (2020)

Critical Points in the Management of Pseudohypoaldosteronism Type 1
por: Güran, Tülay, et al.
Publicado: (2011)

Challenges in the diagnosis and management of Pseudohypoaldosteronism Type 1
por: Visser, Uma, et al.
Publicado: (2015)

Transient Pseudohypoaldosteronism in an Infant: A Case Report
por: Latt, Tin Nwe, et al.
Publicado: (2018)

A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema
por: Ding, Yuan, et al.
Publicado: (2019)

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism
por: Zhang, Rui, et al.
Publicado: (2021)

Pseudohypoaldosteronism Type 1: A Rare Cause of Severe Dyselectrolytemia and Cardiovascular Collapse in Neonates
por: Saravanapandian, Namasivayam, et al.
Publicado: (2012)

Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1
por: Manipriya, R., et al.
Publicado: (2018)

Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?
por: Ağladıoğlu, Sebahat Yılmaz, et al.
Publicado: (2011)

Pseudohypoaldosteronism type 1: clinical features and management in infancy
por: Amin, N, et al.
Publicado: (2013)

Clinical features and molecular basis of pseudohypoaldosteronism type 1
por: Tajima, Toshihiro, et al.
Publicado: (2017)

Secondary Pseudohypoaldosteronism Associated With Mild Hydronephrosis in a Newborn
por: Kodo, Kazuki, et al.
Publicado: (2021)

Transient Pseudohypoaldosteronism Secondary to Group B Streptococcus Pyelonephritis
por: Morisaki, Atsuo, et al.
Publicado: (2021)

Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemia
por: Barforoshi, Shiva, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_tjt2267ld9qghis9ao16ivps1h