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1 . Academic Journal
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
저자
by
Groeneweg, Stefan
;
van Geest, Ferdy S
;
Abacı, Ayhan
;
Alcantud, Alberto
;
Ambegaonkar, Gautam P
, et al.
소스
In
The Lancet Diabetes & Endocrinology
July 2020 8(7):594-605
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7 . Academic Journal
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
저자
by
Groeneweg, Stefan
;
Peeters, Robin P
;
Moran, Carla
;
Stoupa, Athanasia
;
Auriol, Françoise
, et al.
소스
In
The Lancet Diabetes & Endocrinology
September 2019 7(9):695-706
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7 . Academic Journal
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
저자
by
Lawerman, Tjitske F
;
Brandsma, Rick
;
Maurits, Natalia M
;
Martinez‐Manzanera, Octavio
;
Verschuuren‐Bemelmans, Corien C
, et al.
소스
Developmental Medicine & Child Neurology
. Jan2020, Vol. 62 Issue 1, p75-82. 8p.
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7 . Academic Journal
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.
저자
by
Lunsing, Roelineke
;
Strating, Kim
;
Koning, Tom
;
Sijens, Paul
;
Lunsing, Roelineke J
, et al.
소스
European Radiology
(EUR RADIOL), Mar2017; 27(3): 976-984. (9p)
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7 . Academic Journal
Reliability and discriminant validity of ataxia rating scales in early onset ataxia.
저자
by
Brandsma, Rick
;
Lawerman, Tjitske F
;
Kuiper, Marieke J
;
Lunsing, Roelineke J
;
Burger, Huibert
, et al.
소스
Developmental Medicine & Child Neurology
. Apr2017, Vol. 59 Issue 4, p427-432. 6p.
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7 . Academic Journal
The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children.
저자
by
Kuiper, Marieke Johanna
;
Vrijenhoek, Loïs
;
Brandsma, Rick
;
Lunsing, Roelineke J
;
Burger, Huibert
, et al.
소스
Movement Disorders Clinical Practice
. Nov/Dec2016, Vol. 3 Issue 6, p580-586. 7p.
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7 . Periodical
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
저자
by
van Spronsen, Francjan J
;
Himmelreich, Nastassja
;
Rufenacht, Véronique
;
Shen, Nan
;
Vliet, Danique van
, et al.
소스
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 4 p249-253, 5p
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7 . Academic Journal
Reliability of phenotypic early-onset ataxia assessment: a pilot study
저자
by
LAWERMAN, TJITSKE F
;
BRANDSMA, RICK
;
VAN GEFFEN, JOKE T
;
LUNSING, ROELINEKE J
;
BURGER, HUIBERT
, et al.
소스
Developmental Medicine & Child Neurology
. Jan 01, 2016 58(1):70-76
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7 . Academic Journal
Assessment of speech in early-onset ataxia: a pilot study
저자
by
Kuiper, Marieke J
;
Brandsma, Rick
;
Lawerman, Tjitske F
;
Lunsing, Roelineke J
;
Keegstra, Anne L
, et al.
소스
Developmental Medicine & Child Neurology
. Dec 01, 2014 56(12):1202-1206
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7 . Academic Journal
Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure.
저자
by
Sijens PE
;
Alkefaji H
;
Lunsing RJ
;
van Spronsen FJ
;
Meiners LC
, et al.
소스
European Radiology
(EUR RADIOL), Nov2008; 18(11): 2601-2609. (9p)
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