Literature DB >> 14221177

THE STARTLE RESPONSE AND SERUM ENZYME PROFILE IN EARLY DETECTION OF TAY-SACHS' DISEASE.

L SCHNECK, J MAISEL, B W VOLK.   

Abstract

Keywords:  ALDOLASE; AMAUROTIC FAMILIAL IDIOCY; ASPARTATE AMINOTRANSFERASE; BLOOD CHEMICAL ANALYSIS; CHILD; ENZYME TESTS; INFANT; LACTATE DEHYDROGENASE; NOISE; REFLEX

Mesh：

Substances：

Year:  1964        PMID： 14221177     DOI： 10.1016/s0022-3476(64)80161-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  6 in total

1.  Value of rectal biopsy in paediatric neurology: report of 165 biopsies.

Authors:  E M Brett; C L Berry
Journal:  Br Med J       Date:  1967-08-12

2.  A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Authors:  Mustafa Kılıç; Çiğdem Seher Kasapkara; Sebile Kılavuz; Neslihan Önenli Mungan; Gürsel Biberoğlu
Journal:  Metab Brain Dis       Date:  2019-02-02       Impact factor: 3.584

3.  [The myoclonic variants of familial amaurotic idiocy].

Authors:  K Diebold; H Häfner; F Vogel; E Schalt
Journal:  Humangenetik       Date:  1968

4.  Tay-Sachs disease.

Authors:  G K Malik; P N Saksena; G C Rastogi; R Shukla; I Wakhlu
Journal:  Indian J Pediatr       Date:  1979-11       Impact factor: 1.967

5.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

6.  AAV gene therapy for Tay-Sachs disease.

Authors:  Terence R Flotte; Oguz Cataltepe; Ajit Puri; Ana Rita Batista; Richard Moser; Diane McKenna-Yasek; Catherine Douthwright; Gwladys Gernoux; Meghan Blackwood; Christian Mueller; Phillip W L Tai; Xuntian Jiang; Scot Bateman; Spiro G Spanakis; Julia Parzych; Allison M Keeler; Aly Abayazeed; Saurabh Rohatgi; Laura Gibson; Robert Finberg; Bruce A Barton; Zeynep Vardar; Mohammed Salman Shazeeb; Matthew Gounis; Cynthia J Tifft; Florian S Eichler; Robert H Brown; Douglas R Martin; Heather L Gray-Edwards; Miguel Sena-Esteves
Journal:  Nat Med       Date:  2022-02-10       Impact factor: 87.241
  6 in total

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