Yoon S. Shin - Publications, H-index & Citations

Yoon S. Shin

University of Munich

24H指数

239论文数

2.1K被引数

收录论文 19

发表时间

Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease

SCIENTIFIC REPORTS

IF3.9

2023-12-20

OAAI

Rohm, Marlena; Russo, Gabriele; Helluy, Xavier; Froeling, Martijn; Umathum, Vincent; Suedkamp, Nicolina; Manahan-Vaughan, Denise; Rehmann, Robert; Forsting, Johannes; Jacobsen, Frank; Roos, Andreas; Shin, Yoon; Schaenzer, Anne; Vorgerd, Matthias; Schlaffke, Lara

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

ARCHIVES OF MEDICAL SCIENCE

IF3.3

2018-01-01

OAAI

Szymanska, Edyta; Szymanska, Sylwia; Truszkowska, Grazyna; Ciara, Elzbieta; Pronicki, Maciej; Shin, Yoon S.; Podskarbi, Teodor; Kepka, Alina; Spiewak, Mateusz; Ploski, Rafal; Bilinska, Zofia T.; Rokicki, Dariusz

Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study

PEDIATRIC RESEARCH

IF3.1

2015-06-08

OAAI

Knerr, Ina; Coss, Karen Patricia; Kratzsch, Juergen; Crushell, Ellen; Clark, Anne; Doran, Peter; Shin, Yoon; Stoeckmann, Henning; Rudd, Pauline Mary; Treacy, Eileen

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey

CLINICA CHIMICA ACTA

IF2.9

2015-01-01

PREAI

Okubo, Minoru; Ucar, Sema Kalkan; Podskarbi, Teodor; Murase, Toshio; Shin, Yoon S.; Coker, Mahmut

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 磷酸葡萄糖变现酶1缺乏症的多种表型

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2014-02-06

206

OAAI

Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T.

Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and/or G1391A mutations

ACTA OPHTHALMOLOGICA

IF2.8

2010-03-10

OAAI

Schmidt, Dieter; Shin, Yoon S.; Auw-Haedrich, Claudia; Tacke, Uta

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings (vol 95, pg 52, 2008)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2009-05-01

OAAI

Schoser, Benedikt; Bruno, Claudio; Schneider, Hans-Christian; Shin, Yoon S.; Podskarbi, Teodor; Goldfarb, Lev; Mueller-Felber, Wolfgang; Mueller-Hoecker, Josef

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

MOLECULAR GENETICS AND METABOLISM

IF3.5

2008-09-01

OAAI

Schoser, Benedikt; Bruno, Claudio; Schneider, Hans-Christian; Shin, Yoon S.; Podskarbi, Teodor; Goldfarb, Lev; Mueller-Felber, Wolfgang; Mueller-Hoecker, Josef

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene

CIRCULATION JOURNAL

IF3.7

2007-01-01

OAAI

Ogimoto, Akiyoshi; Okubo, Minoru; Okayama, Hideki; Shin, Yoon S.; Endo, Yoriko; Ebara, Tetsu; Inoue, Katsuji; Ohtsuka, Tomoaki; Tahara, Hideki; Murase, Toshio; Higaki, Jistuo

Delayed or late-onset type II glycogenosis with globular inclusions

ACTA NEUROPATHOLOGICA

IF9.3

2005-06-29

PREAI

Sharma, MC; Schultze, C; von Moers, A; Stoltenburg-Didinger, G; Shin, YS; Podskarbi, T; Isenhardt, K; Tews, DS; Goebel, HH

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2004-12-22

OAAI

Hoffmann, F; Lohse, P; Stojanov, S; Shin, YS; Renner, ED; Kéry, A; Zellerer, S; Belohradsky, BH

Muscle glycogenosis with low phosphorylase kinase activity:: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2003-06-27

OAAI

Burwinkel, B; Hu, B; Schroers, A; Clemens, PR; Moses, SW; Shin, YS; Pongratz, D; Vorgerd, M; Kilimann, MW

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening

PEDIATRIC RESEARCH

IF3.1

2002-05-01

OAAI

Reich, S; Hennermann, J; Vetter, B; Neumann, LM; Shin, YS; Söling, A; Monch, E; Kulozik, AE

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

ANNALS OF NEUROLOGY

IF7.7

2001-01-01

PREAI

Ziemssen, F; Sindern, E; Schröder, JM; Shin, YS; Zange, JH; Kilimann, MW; Malin, JP; Vorgerd, M

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

HUMAN MUTATION

IF3.7

1999-01-01

118

PREAI

Tyfield, L; Reichardt, J; Fridovich-Keil, J; Croke, DT; Elsas, LJ; Strobl, W; Kozak, L; Coskun, T; Novelli, G; Okano, Y; Zekanowski, C; Shin, Y; Boleda, MD

Differential UDP-galactose-4′-epimerase (GALE) enzymatic activity and mRNA expression in the rat mammary gland during lactation

FEBS LETTERS

IF3

1998-08-06