Works matching DE "PHOSPHORUS metabolism disorders"

Results: 59

PERINATAL LETHAL FORM OF HYPOPHOSPHATASIA.

Published in:

Journal of Ankara Medical School, 2002, v. 24, n. 1, p. 35

By:

Atasay, Begüm;
Günlemez, Ayla;
Kizialateš, Sevin Ünal

Publication type:

Article

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

Published in:

2016

By:

Okazaki, Yoko;
Kitajima, Hiroyuki;
Mochizuki, Narutaka;
Kitaoka, Taichi;
Michigami, Toshimi;
Ozono, Keiichi

Publication type:

journal article

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Published in:

2005

By:

Michigami, Toshimi;
Uchihashi, Takayuki;
Suzuki, Akira;
Tachikawa, Kanako;
Nakajima, Shigeo;
Ozono, Keiichi

Publication type:

journal article

Childhood hypophosphatasia: to treat or not to treat.

Published in:

2018

By:

Rush, Eric T.

Publication type:

journal article

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 345, doi. 10.1038/81664

By:

White, Kenneth E.;
Evans, Wayne E.;
O'Riordan, Jeffery L.H.;
Speer, Marcy C.;
Econs, Michael J.;
Lorenz-Depiereux, Bettina;
Grabowski, Monika;
Meitinger, Thomas;
Strom, Tim M.

Publication type:

Article

Hypophosphatasia: Genetic and Dental Studies.

Published in:

Annals of Internal Medicine, 1966, v. 65, n. 4, p. 722, doi. 10.7326/0003-4819-65-4-722

By:

Pimstone, B.;
Eisenberg, E.;
Silverman, S.

Publication type:

Article

CME POSTTEST.

Published in:: JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 7, p. 38
Publication type:: Article

Effect of TSH suppression therapy on serum minerals in newly diagnosed hypothyroid patients.

Published in:

International Journal of Pharmaceutical Research (09752366), 2019, v. 11, n. 4, p. 878, doi. 10.31838/ijpr/2019.11.04.202

By:

LALITHAMMA, A.;
S., VADIVEL

Publication type:

Article

Hypophosphatemia during Starvation in Anorexia Nervosa.

Published in:

International Journal of Eating Disorders, 1988, v. 7, n. 4, p. 551, doi. 10.1002/1098-108x(198807)7:4<551::aid-eat2260070413>3.0.co;2-#

By:

Waldholtz, Bruce D.;
Andersen, Arnold E.

Publication type:

Article

Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.

Published in:

2007

By:

PEACH, C. A.;
ZHANG, Y.;
WORDSWORTH, B. P.

Publication type:

Letter

Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.

Published in:

Annals of Clinical Biochemistry, 2021, v. 58, n. 4, p. 335, doi. 10.1177/00045632211000102

By:

Araci, Mehmet Bilal;
Akgun, Bilcag;
Atik, Tahir;
Isik, Esra;
Ak, Gunes;
Barutcuoglu, Burcu;
Ozkinay, Ferda

Publication type:

Article

Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia.

Published in:

Annals of Clinical Biochemistry, 2000, v. 37, n. 6, p. 775, doi. 10.1258/0004563001900093

By:

Iqbal, S J;
Davies, T;
Holland, S;
Manning, T;
Whittaker, P

Publication type:

Article

Hypophosphatasia update: recent advances in diagnosis and treatment.

Published in:

Clinical Genetics, 2008, v. 73, n. 3, p. 232, doi. 10.1111/j.1399-0004.2007.00958.x

By:

Cole, D.E.C.

Publication type:

Article

Adult Hypophosphatasia and a Low Level of Red Blood Cell Thiamine Pyrophosphate.

Published in:

Annals of Nutrition & Metabolism, 2005, v. 49, n. 2, p. 107, doi. 10.1159/000084743

By:

Khanh Vinh Quoc Luong;
Lan Thi Hoang Nguyen

Publication type:

Article

Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation.

Published in:

2014

By:

Fei Xie;
Zhi-dong Cen;
Li-li Chen;
Wei Luo

Publication type:

Case Study

Sevelamer Therapy for Pediatric End-Stage Renal Disease.

Published in:

Pharmacotherapy, 2006, v. 26, n. 3, p. 410, doi. 10.1592/phco.26.3.410

By:

Storms, Lara E.;
Chicella, Michael F.;
Dice, James E.

Publication type:

Article

Hypophosphatasia.

Published in:

2013

By:

Chen, Haisong;
Han, Yan;
Li, Xiaofei;
Liu, Xuejun;
Feng, Weihua;
Xu, Wenjian

Publication type:

Editorial

A molecular approach to dominance in hypophosphatasia.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 99, doi. 10.1007/s004390100546

By:

Lia-Baldini, A. S.;
Muller, F.;
Taillandier, A.;
Gibrat, J. F.;
Mouchard, M.;
Robin, B.;
Simon-Bouy, B.;
Serre, J. L.;
Aylsworth, A. S.;
Bieth, E.;
Delanote, S.;
Freisinger, P.;
Hu, J. C.-C.;
Krohn, H.-P.;
Nunes, M. E.;
Mornet, E.

Publication type:

Article

The utility of the phosphate binder, ferric citrate hydrate (JTT-751), about phosphorus absorption-reducing effect in normal rats.

Published in:

Renal Failure, 2014, v. 36, n. 8, p. 1291, doi. 10.3109/0886022X.2014.930491

By:

Matsuo, Akira;
Iida, Akio;
Tanimoto, Minako;
Matsushita, Mutsuyoshi;
Miyamoto, Ken-ichi

Publication type:

Article

Prediyaliz ve Hemodiyaliz Hastalarında Kalp Yapı ve Fonksiyonlarının ve Buna İlişkin Faktörlerin Karşılaştırılması.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2011, v. 49, n. 1, p. 20

By:

Ozdemir, Rabia Bilge;
Muderrisoğlu, Cuneyt;
Besler, Mine;
Sarıkamıfl, Cetin;
Ozdemir, Alper Tunga;
Aral, Hale;
Gurcan, Zeynep;
Usta, Murat

Publication type:

Article

Hypophosphatemia: An Evidence-based Problem-Solving Approach to Clinical Cases.

Published in:

Iranian Journal of Kidney Diseases, 2010, v. 4, n. 3, p. 195

By:

Assadi, Farahnak

Publication type:

Article

Molecular Diagnosis of Hypophosphatasia With Severe Periodontitis.

Published in:

Journal of Periodontology, 1999, v. 70, n. 6, p. 688, doi. 10.1902/jop.1999.70.6.688

By:

Watanabe, Hisashi;
Goseki-Sone, Masae;
Iimura, Tadahiro;
Oida, Shinichiro;
Orimo, Hideo;
Ishikawa, Isao

Publication type:

Article

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Published in:

2010

By:

Mejia-Gaviria, Natalia;
Gil-Peña, Helena;
Coto, Eliecer;
Pérez-Menéndez, Teresa M.;
Santos, Fernando

Publication type:

Case Study

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-6

By:

Reibel, Amélie;
Manière, Marie-Cécile;
Clauss, François;
Droz, Dominique;
Alembik, Yves;
Mornet, Etienne;
Bloch-Zupan, Agnès

Publication type:

Article

Chemistry/Thursday Session 1, November 1, 2012.

Published in:: 2012
Publication type:: Abstract

Experimental Investigations on Immunology of the Parathyroid Gland.

Published in:

Immunology, 1968, v. 14, n. 4, p. 475

By:

Lupulescu, A.;
Potorac, E.;
Pop, A.;
Heitmanek, Constanta;
Merculiev, Elena;
Chisiu, N.;
Oprisan, R.;
Neacsu, C.

Publication type:

Article

POST-ERUPTIVE CHANGES IN THE PERMANENT DENTITION OF DOGS FED RACHITOGENIC DIETS.

Published in:

Journal of Dental Research, 1932, v. 12, n. 5, p. 695, doi. 10.1177/00220345320120050201

By:

BLACKBERG, S. N.;
BERKE, J. D.

Publication type:

Article

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene.

Published in:

Collegium Antropologicum, 2009, v. 33, n. 4, p. 1255

By:

Ramadža, Danijela Petković;
Stipojjev, Feodora;
Sarnavka, Vladimir;
Begović, Davor;
Potočki, Kristina;
Fumić, Ksenija;
Mornet, Etienne;
Barić, Ivo

Publication type:

Article

Nondestructive Microcomputed Tomography Evaluation of Mineral Density in Exfoliated Teeth with Hypophosphatasia.

Published in:

2016

By:

Hayashi-Sakai, Sachiko;
Hayashi, Takafumi;
Sakamoto, Makoto;
Sakai, Jun;
Shimomura-Kuroki, Junko;
Nishiyama, Hideyoshi;
Katsura, Kouji;
Ike, Makiko;
Nikkuni, Yutaka;
Nakayama, Miwa;
Soga, Marie;
Kobayashi, Taichi

Publication type:

Case Study

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report.

Published in:

2012

By:

Demirbilek, Hüseyin;
Alanay, Yasemin;
Alikaşifoğlu, Ayfer;
Topçu, Meral;
Mornet, Etienne;
Gönç, Nazlı;
Özön, Alev;
Kandemir, Nurgün

Publication type:

Case Study

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1160, doi. 10.1038/ejhg.2014.10

By:

Hofmann, Christine;
Girschick, Hermann;
Mornet, Etienne;
Schneider, Doris;
Jakob, Franz;
Mentrup, Birgit

Publication type:

Article

SELF ASSESSMENT ANSWERS: A patient with severe hyperphosphatsemia.

Published in:: Postgraduate Medical Journal, 2001, v. 77, n. 909, p. 483
Publication type:: Article

SELF ASSESSMENT QUESTIONS: A patient with severe hyperphosphataemia.

Published in:

Postgraduate Medical Journal, 2001, v. 77, n. 909, p. 473, doi. 10.1136/pmj.77.909.473a

By:

Chow, K. M.;
Li, P. K. T.

Publication type:

Article

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

Published in:

Journal of Bone & Mineral Research, 2011, v. 26, n. 10, p. 2389, doi. 10.1002/jbmr.454

By:

Wenkert, Deborah;
McAlister, William H;
Coburn, Stephen P;
Zerega, Janice A;
Ryan, Lawrence M;
Ericson, Karen L;
Hersh, Joseph H;
Mumm, Steven;
Whyte, Michael P

Publication type:

Article

Prolonged Survival and Phenotypic Correction of Akp2<sup>-/-</sup> Hypophosphatasia Mice by Lentiviral Gene Therapy.

Published in:

Journal of Bone & Mineral Research, 2011, v. 26, n. 1, p. 135, doi. 10.1002/jbmr.201

By:

Yamamoto, Seiko;
Orimo, Hideo;
Matsumoto, Tae;
Iijima, Osamu;
Narisawa, Sonoko;
Maeda, Takahide;
Millán, José Luis;
Shimada, Takashi

Publication type:

Article

Editorial: Bone-Targeted Replacement Therapy for Hypophosphatasia.

Published in:

Journal of Bone & Mineral Research, 2008, v. 23, n. 6, p. 775, doi. 10.1359/jbmr.080305

By:

Drake, Matthew T.;
Khosla, Sundeep

Publication type:

Article

A PEST-like element in FREQUENCY determines the length of the circadian period in Neurospora crassa.

Published in:

EMBO Journal, 2001, v. 20, n. 24, p. 7074, doi. 10.1093/emboj/20.24.7074

By:

Görl, Margit;
Merrow, Martha;
Huttner, Benedikt;
Johnson, Judy;
Roenneberg, Till;
Brunner, Michael

Publication type:

Article

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

Published in:

Prenatal Diagnosis, 2003, v. 23, n. 9, p. 743, doi. 10.1002/pd.696

By:

Hideaki Sawai;
Nozomi Kanazawa;
Yuki Tsukahara;
Kazunori Koike;
Hideo Udagawa;
Koji Koyama;
Etienne Mornet

Publication type:

Article

Hypophosphatasia (Diagnosis of case on preceding page.).

Published in:: Clinical Pediatrics, 1963, v. 2, n. 6, p. 344, doi. 10.1177/000992286300200610
Publication type:: Article

Hyperphosphatemia as an independent risk factor for coronary artery calcification progression in peritoneal dialysis patients.

Published in:

BMC Nephrology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12882-015-0103-8

By:

Da Shang;
Qionghong Xie;
Xiaolin Ge;
Huanqing Yan;
Jing Tian;
Dingwei Kuang;
Chuan-Ming Hao;
Tongying Zhu

Publication type:

Article

Effect of phosphorus deficiency on erythrocytic morphology and function in cows.

Published in:

Journal of Veterinary Science, 2017, v. 18, n. 3, p. 333, doi. 10.4142/jvs.2017.18.3.333

By:

Ziwei Zhang;
Mingyu Bi;
Jie Yang;
Haidong Yao;
Zhonghua Liu;
Shiwen Xu

Publication type:

Article

Molecular mechanisms of circadian timekeeping in Drosophila.

Published in:

Sleep & Biological Rhythms, 2009, v. 7, n. 4, p. 235, doi. 10.1111/j.1479-8425.2009.00412.x

By:

HARDIN, Paul E.

Publication type:

Article

Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism.

Published in:

Pediatric Nephrology, 2010, v. 25, n. 4, p. 591, doi. 10.1007/s00467-009-1273-z

By:

Gattineni, Jyothsna;
Baum, Michel

Publication type:

Article

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.

Published in:

BMC Pediatrics, 2007, v. 7, p. 3, doi. 10.1186/1471-2431-7-3

By:

Girschick, Hermann J.;
Mornet, Etienne;
Beer, Meinrad;
Warmuth-Metz, Monika;
Schneider, Peter

Publication type:

Article

Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406.

Published in:

FEBS Journal, 2008, v. 275, n. 11, p. 2727, doi. 10.1111/j.1742-4658.2008.06414.x

By:

Numa, Natsuko;
Ishida, Yoko;
Nasu, Makiko;
Sohda, Miwa;
Misumi, Yoshio;
Noda, Tadashi;
Oda, Kimimitsu

Publication type:

Article

Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433→Cys substitution associated with severe hypophosphatasia.

Published in:

FEBS Journal, 2006, v. 273, n. 24, p. 5612, doi. 10.1111/j.1742-4658.2006.05550.x

By:

Nasu, Makiko;
Ito, Masahiro;
Ishida, Yoko;
Numa, Natsuko;
Komaru, Keiichi;
Nomura, Shuichi;
Oda, Kimimitsu

Publication type:

Article

P03.07: Hypophosphatasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 175, doi. 10.1002/uog.16521

By:

Witters, I.;
Konings, M.;
Coumans, A.;
Sallevelt, S.;
Robben, S.;
Pieters, M.;
Die, C.

Publication type:

Article

Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation.

Published in:

British Journal of Dermatology, 2003, v. 148, n. 5, p. 1074, doi. 10.1046/j.1365-2133.2003.05273.x

By:

Saraswat, A.;
Dogra, S.;
Bansali, A.;
Kumar, B.

Publication type:

Article

Phosphate Binders in Chronic Kidney Disease and End-Stage Renal Disease: A Patient-Centered Approach.

Published in:

Seminars in Dialysis, 2009, v. 22, n. 1, p. 56, doi. 10.1111/j.1525-139X.2008.00514.x

By:

Novak, James E.;
Szczech, Lynda A.

Publication type:

Article

Hyperphosphatemia and hyperparathyroidism in incident chronic kidney disease patients: New strategies to prevent cardiovascular risk in chronic kidney disease.

Published in:

Kidney International, 2008, v. 74, p. S88, doi. 10.1038/ki.2008.543

By:

Ramos, Ana M.;
Albalate, Marta;
Vázquez, Silvia;
Caramelo, Carlos;
Egido, Jesús;
Ortiz, Alberto

Publication type:

Article