搜索页_Hypophosphatasia

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Wiley电子期刊(3)	SpringerLink电子期刊(58)	ACS电子期刊(1)
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在“Elsevier电子期刊”中，命中：84条，耗时：小于0.01 秒

在所有数据库中总计命中：148条

1.A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

作者：Birgit Mentrup^a ; ^{b-mentrup.klh@uni-wuerzburg.de} ; Hermann Girschick^b ; Franz Jakob^a ; Christine Hofmann^c

关键词：Hypophosphatasia ; Alkaline phosphatase ; Intron deletion ; Splicing ; Branch-point ; Transcript variant

刊名：Bone

出版年：2017

2.Impact of miglustat therapy on the hypophosphatasia mouse model

作者：Michael Flanagan^a ; Ashaki Patel^b ; Qi Gan^a ; Sai Pinni^c ; Yana Puckett^b ; Birju Patel^a ; Adriana Montañ ; o^a

刊名：Molecular Genetics and Metabolism

出版年：2017

3.Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys

作者：Thomas J. Weber^a ; ^{thomas.weber@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Eileen K. Sawyer^b ; Scott Moseley^b ; Tatjana Odrljin^b ; ¹ ; Priya S. Kishnani^a

关键词：Hypophosphatasia ; Metabolic bone disease ; Burden of illness ; Patient reported outcomes

刊名：Metabolism

出版年：2016

4.Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth

作者：Mari Mori^a ; ^{mari.mori@duke.edu} ; Stephanie L. DeArmey^a ; ^{stephanie.dearmey@duke.edu} ; Thomas J. Weber^b ; ^{thomas.weber2@duke.edu} ; Priya S. Kishnani^a ; ^{priya.kishnani@duke.edu}

关键词：Hypophosphatasia ; Odontohypophosphatasia ; Premature tooth loss ; Metabolic bone disease ; Tissue-nonspecific alkaline phosphatase

刊名：Bone Reports

出版年：2016

5.Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia

作者：Neil A. Braunstein ^{Neil.Braunstein@optum.com" class="auth_mail" title="E-mail the corresponding author}

关键词：HPP ; hypophosphatasia ; PEA ; phosphoethanolamine ; PLP ; pyridoxal-5&prime ; -phosphate ; PPi ; inorganic pyrophosphate ; TNSALP ; tissue-nonspecific isoenzyme of alkaline phosphatase

刊名：Bone Reports

出版年：2016

6.Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia

作者：Esther Maman ; ^{esther_maman@hotmail.fr" class="auth_mail" title="E-mail the corresponding author} ; Karine Briot ; Christian Roux

关键词：Atypical femoral fracture ; Hypophosphatasia ; Bisphosphonate

刊名：Joint Bone Spine

出版年：2016

7.Physical therapy management of infants and children with hypophosphatasia

作者：Dawn Phillips^a ; ^{dawnphillipspt@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Laura E. Case^b ; ^{laura.case@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Donna Griffin^c ; ^{dgriffin@shrinenet.org" class="auth_mail" title="E-mail the corresponding author} ; Kim Hamilton^d ; ^{kimberly_erin@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sergio Lerma Lara^e ; ^{sergio.lerma@lasallecampus.es" class="auth_mail" title="E-mail the corresponding author} ; Beth Leiro^f ; ^{beth.leiro@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jessica Monfreda^g ; ^{jessica.monfreda@cchmc.org" class="auth_mail" title="E-mail the corresponding author} ; Elaine Westlake^g ; ^h ; ^{elainewestlakept@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Priya S. Kishnaniⁱ ; ^{priya.kishnani@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ADL ; activities of daily living ; BOT-2 ; Bruininks-Oseretsky Test of Motor Proficiency ; Second Edition ; CHAQ ; Childhood Health Assessment Questionnaire ; FLACC ; Face ; Legs ; Activity ; Cry ; Consolability Scale ; HPP ; hypophosphatasia ; N-PASS ; Neonatal Pain ; Agitation and Sedation Scale ; Pi ; inorganic phosphate ; PLP ; pyridoxal-5&prime ; -phosphate ; PODCI ; Pediatric Outcomes Data Collection Instrument ; PPi ; inorganic pyrophosphate ; PRO ; patient-reported outcome measure ; PT ; physical therapy ; ROM ; range o

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

作者：Michael P. Whyte ; MD^a ; ^b ; ^{mwhyte@shrinenet.org" class="auth_mail" title="E-mail the corresponding author} ; Deborah Wenkert ; MD^a ; Fan Zhang ; MD^a

关键词：ALP ; alkaline phosphatase ; BMD ; bone mineral density ; CDC ; Centers for Disease Control and Prevention ; DXA ; dual-energy X-ray absorptiometry ; HPP ; hypophosphatasia ; NIH ; National Institutes of Health ; PPi ; inorganic pyrophosphate ; SAS ; Statistical Analysis Software ; SD ; standard deviation ; TNSALP ; tissue-nonspecific ALP isoenzyme ; TNSALP ; the gene (ALPL) that encodes TNSALP

刊名：Bone

出版年：2016

9.A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia

作者：Vrinda Saraff ; MRCPCH¹ ; ^&lowast ; ; Vidya K. Narayanan ; MRCPCH¹ ; ^&lowast ; ; Alexander J. Lawson ; PhD² ; ³ ; Nicholas J. Shaw ; FRCPCH¹ ; Mary Anne Preece ; FRCPath³ ; Wolfgang Hö ; gler ; MD¹ ; ^{wolfgang.hogler@bch.nhs.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：ALP ; Alkaline phosphatase ; PEA ; Phosphoethanolamine ; PLP ; Pyridoxal-5&prime ; -phosphate ; PPi ; Inorganic pyrophosphate ; TNSALP ; Tissue nonspecific ALP

刊名：The Journal of Pediatrics

出版年：2016

10.Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

作者：Agnè ; s Taillandier^a ; ^{ataillandier@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Christelle Domingues^a ; ^{christelle.adam1@voila.fr" class="auth_mail" title="E-mail the corresponding author} ; Clé ; mence De Cazanove^a ; ^{c.de.casanove@outlook.fr" class="auth_mail" title="E-mail the corresponding author} ; Valé ; rie Porquet-Bordes^b ; ^{porquet-bordes.v@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Sophie Monnot^c ; ^{sophie.monnot@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Tina Kiffer-Moreira^d ; ^{kiffer-moreira@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Agnè ; s Rothenbuhler^e ; ^f ; ^{anya.rothenbuhler@bct.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Pascal Guggenbuhl^g ; ^{pascal.guggenbuhl@chu-rennes.fr" class="auth_mail" title="E-mail the corresponding author} ; Catherine Cormier^h ; ^{Catherine.Cormier@cch.ap-hop-paris.fr" class="auth_mail" title="E-mail the corresponding author} ; Geneviè ; ve Baujatⁱ ; ^{genevieve.baujat@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Franç ; oise Debiais^j ; ^{francoise.debiais@chu-poitiers.fr" class="auth_mail" title="E-mail the corresponding author} ; Yline Capri^k ; ^{yline.capri@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Martine Cohen-Solal^l ; ^{martine.cohen-solal@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Philippe Parent^m ; ^{philippe.parent@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Jean Chiesaⁿ ; ^{jean.chiesa@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Anne Dieux^o ; ^{anne.dieux@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Florence Petit^o ; ^{florence.petit@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Joelle Roume^p ; ^{drjroume@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Monica Isnard^q ; Valé ; rie Cormier-Daire^c ; ^{valerie.cormier-daire@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Agnè ; s Linglart^e ; ^f ; ^{agnes.linglart@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; José ; Luis Millá ; n^d ; ^{millan@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Jean-Pierre Salles^b ; ^{salles.jp@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Christine Muti^a ; ^{cmuti@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Brigitte Simon-Bouy^a ; ^{bsimon-bouy@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Etienne Mornet^a ; ^{emornet@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Hypophosphatasia ; NGS ; Differential diagnosis ; Osteogenesis imperfecta

刊名：Molecular Genetics and Metabolism

出版年：2015

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