Results 141 to 150 of about 5,396 (203)

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature. [PDF]

Case Rep Pediatr
Degroot GN, Empain A, Dedeken L, Demulder A, Demulder A, Rozen L.   +5 more
europepmc   +1 more source

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults

Louise Møldrup Nielsen, L. Figueres
openalex   +1 more source

Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review. [PDF]

Case Rep Med
Haddiya I, Ramdani S, Kadi A, Machmachi I, Benabdelhak M, Bentata Y.   +5 more
europepmc   +1 more source

Novel <i>RRAGD</i> Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives. [PDF]

Kidney Int Rep
Adella A, Jouret F, Madariaga L, Leermakers PA, Arango P, Ariceta G, Beck BB, Bjerre A, Bockenhauer D, Coccia P, Dhamija R, de Frutos F, Garcia-Castano A, van Katwijk SB, Lucas J, Möller T, Müller D, Pinto E Vairo F, Raki M, Rips J, Schlingmann KP, Venselaar H, Machado Bressan Wilke MV, Nijenhuis T, Hoenderop J, de Baaij J.   +25 more
europepmc   +1 more source

Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature. [PDF]

Int Med Case Rep J
Abu Jabal K, Beiruti Wiegler K, Sgayer I, Frank Wolf M, Jeries G, Bathish Y.   +5 more
europepmc   +1 more source

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up. [PDF]

Front Genet
Lu H, Liu S, Sun J, Mou L.
europepmc   +1 more source

Kearns-Sayre syndrome presenting with fanconi syndrome: a case report. [PDF]

Transl Pediatr
Lu Y, Jian S, Qian M, Qiu Z, Wei M, Xiao J, Song H, Zhang Z.   +7 more
europepmc   +1 more source

Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

Víctor Manuel García Nieto, Félix Claverie-Martı́n, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Ma Fraga-Rodríguez, María I. Luis Yanes, Elena Ramos‐Trujillo   +6 more
openalex   +1 more source

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild ...
openaire  

A 56-year-Old Woman With Initial Severe Electrolyte Imbalance Who Developed Altered Mental Status, Psychosis and Catatonia. [PDF]

Neurohospitalist
Peschard-Franco M, Piña-Rosales E, García-Santos A.   +2 more
europepmc   +1 more source