Search Results - "SANJAD, S. A"

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss by Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E

“…Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased…”
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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK by SIMON, D. B, KARET, F. E, RODRIGUEZ-SORIANO, J, HAMDAN, J. H, DIPIETRO, A, TRACHTMAN, H, SANJAD, S. A, LIFTON, R. P

“…Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic…”
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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness by Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand

“…H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We…”
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Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III by Stone, Rosário, Bakkaloglu, Aysin, John, Eunice, Nayir, Ahmet, Trachtman, Howard, Alpay, Harika, Mansfield, Traci A, Simon, David B, Mendonca, Erica, Schurman, Scott, Sanjad, Sami A, Griswold, William, Nelson-Williams, Carol, Morales, Jose M, Brem, Andrew, Taylor, C. Mark, Lifton, Richard P, Richard, George A, Bindra, Ranjit S, Pilz, Daniela, Rodriguez-Soriano, Juan

“…Analysis of patients with inherited hypokalaemic alkalosis resulting from salt-wasting has proved fertile ground for identification of essential elements of…”
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Management of hyperlipidemia in children with refractory nephrotic syndrome: The effect of statin therapy by Sanjad, Sami A., Al-Abbad, Abbas, Al-Shorafa, Saleh

“…The efficacy and safety of hydroxymethylglutaric coenzyme A reductase inhibitor (statins) in the treatment of hyperlipidemia were evaluated in 12 infants and…”
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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34 by Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.

“…Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA…”
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A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features by Sanjad, S A, Sakati, N A, Abu-Osba, Y K, Kaddoura, R, Milner, R D

“…Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the…”
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Bartter syndrome in a neonate : early treatment with indomethacin by MOURANI, C. C, SANJAD, S. A, AKATCHERIAN, C. Y

“…The neonatal form of Bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early…”
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Intensive care and immediate follow-up of children after renal transplantation by Seikaly, M.G, Sanjad, S.A

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Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children by Sanjad, S.A, Ibrahim, A, Al Shorafa, S, Al Abbad, A, Khauli, R.B, Shaibani, K.A.P, Al Sabban, E

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Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 by Simon, D B, Karet, F E, Hamdan, J M, DiPietro, A, Sanjad, S A, Lifton, R P

“…Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and…”
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Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing by Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W

“…The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of α-intercalated cells of the cortical collecting…”
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A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity by BURWINKEL, B, SANJAD, S. A, AL-SABBAN, E, AL-ABBAD, A, KILIMANN, M. W

“…Fanconi-Bickel syndrome is characterized by hepato-renal glycogenosis with severe renal tubular dysfunction and rickets. It has recently been found to be…”
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Congenital chloride diarrhea: A single center experience with ten patients by Al-Abbad, A, Nazer, H, Sanjad, S A, Al-Sabban, E

“…Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder characterized by life-long watery diarrhea with a high fecal chloride concentration…”
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Renal hypoprostaglandism, hypertension, and type IV renal tubular acidosis reversed by furosemide by Sanjad, S A, Keenan, B S, Hill, L L

“…A 13-year-old white girl with severe hypertension and type IV renal tubular acidosis had decreased renal chloride clearance and exaggerated sodium chloride…”
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Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction by Sanjad, S A, Mansour, F M, Hernandez, R H, Hill, L L

“…A 13-year-old girl with severe hypertension (240/140 mm Hg), short stature, marked hyperkalemia (8.6 mEq/liter), and renal tubular acidosis was studied. Renal…”
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Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency by Sanjad, S A, Kaddoura, R E, Nazer, H M, Akhtar, M, Sakati, N A

“…To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology. Convenience sample. Tertiary…”
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Childhood acute leukemia: a search for occult extramedullary disease prior to discontinuation of chemotherapy by Mahoney, Jr, D H, Gonzales, E T, Ferry, G D, Sanjad, S A, von Noorden, G K, Fernbach, D J

“…Between January 1978 and September 1979, 29 children with acute leukemia in complete continuous remission for three or more years were examined for evidence of…”
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1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND) by Sanjad, SA, Lu, Y, Khoury, C, Habbal, Z, Lifton, R

“…Background FHHNC is a rare autosomal recessive tubulopathy of the thick ascending limb due to inactivating mutations in the Claudin-16 and Claudin-19 genes…”
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Nephropathy, an underestimated complication of methicillin therapy by Sanjad, S A, Haddad, G G, Nassar, V H

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