Literature DB >> 12600970

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

Zoltan Lukacs1, Pirkko Santavuori, Angelika Keil, Robert Steinfeld, Alfried Kohlschütter.   

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Year:  2003        PMID： 12600970     DOI： 10.1373/49.3.509

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  13 in total

1.  Towards quality assurance in the determination of lysosomal enzymes: a two-centre study.

Authors:  Z Lukacs; A Keil; V Peters; A Kohlschütter; G F Hoffmann; M Cantz; J Kopitz
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 2.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

3.  Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran.

Authors:  Mohammad Abdi; Mohammad Said Hakhamaneshi; Mohammad Reza Alaei; Namam-Ali Azadi; Rahim Vakili; Daniel Zamanfar; Mohammad Taghikhani; Shohreh Khatami
Journal:  Indian J Clin Biochem       Date:  2014-07-30

4.  Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Authors:  Chihiro Ohba; Hitoshi Osaka; Mizue Iai; Sumimasa Yamashita; Yume Suzuki; Noriko Aida; Nobuyuki Shimozawa; Ayumi Takamura; Hiroshi Doi; Atsuko Tomita-Katsumoto; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Yoshikatsu Eto; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Neurogenetics       Date:  2013-10-04       Impact factor: 2.660

5.  Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.

Authors:  Adrian C Sewell; Mark E Haskins; Urs Giger
Journal:  Vet Clin Pathol       Date:  2012-11-02       Impact factor: 1.180

6.  Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Authors:  Romina Kohan; María Noelia Carabelos; Winnie Xin; Katherine Sims; Norberto Guelbert; Inés Adriana Cismondi; Patricia Pons; Graciela Irene Alonso; Mónica Troncoso; Scarlet Witting; David A Pearce; Raquel Dodelson de Kremer; Ana María Oller-Ramírez; Inés Noher de Halac
Journal:  Gene       Date:  2012-12-22       Impact factor: 3.688

7.  Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Authors:  Jyotsna Verma; Divya C Thomas; David C Kasper; Sandeepika Sharma; Ratna D Puri; Sunita Bijarnia-Mahay; Pramod K Mistry; Ishwar C Verma
Journal:  JIMD Rep       Date:  2016-03-24

8.  Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Authors:  Xenia Lojewski; John F Staropoli; Sunita Biswas-Legrand; Alexandra M Simas; Larissa Haliw; Martin K Selig; Scott H Coppel; Kendrick A Goss; Anton Petcherski; Uma Chandrachud; Steven D Sheridan; Diane Lucente; Katherine B Sims; James F Gusella; Dolan Sondhi; Ronald G Crystal; Peter Reinhardt; Jared Sterneckert; Hans Schöler; Stephen J Haggarty; Alexander Storch; Andreas Hermann; Susan L Cotman
Journal:  Hum Mol Genet       Date:  2013-11-23       Impact factor: 5.121

9.  Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots.

Authors:  Hamid Khaledi; Yang Liu; Sophia Masi; Michael H Gelb
Journal:  Anal Chem       Date:  2018-09-24       Impact factor: 8.008

10.  Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns.

Authors:  Mariana Barcenas; Chang Xue; Tatyana Marushchak-Vlaskin; C Ronald Scott; Michael H Gelb; František Tureček
Journal:  Anal Chem       Date:  2014-07-21       Impact factor: 6.986
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