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자료유형
- Academic Journals (378)
- Magazines (37)
- eBooks (3)
자료유형

Count Name
- Academic Journals (378)
- Magazines (37)
- eBooks (3)
- Books (2)
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주제
- glycogen storage disease type ii (71)
- enzyme replacement therapy (37)
- pompe disease (27)
주제

Count Name
- glycogen storage disease type ii (71)
- enzyme replacement therapy (37)
- pompe disease (27)
- glycogen storage disease (26)
- acid alpha-glucosidase (20)
- alpha-glucosidases (18)
- diagnosis (16)
- newborn screening (16)
- glycogen storage disease type iv (15)
- glycogen (14)
- glycogen storage disease type iii (13)
- liver (12)
- gaa (11)
- lysosomal storage disease (10)
- lysosomal storage diseases (10)
- mutation (10)
- digital microfluidics (9)
- dried blood spot (9)
- glycogen branching enzyme (9)
- alglucosidase alpha (8)
- enzyme assay (8)
- enzymes (8)
- hypoglycemia (8)
- mannose-6-phosphate receptor (8)
- children (7)
- dried blood spots (7)
- genotype-phenotype correlation (7)
- glycogen storage disease type i (7)
- acid maltase (6)
- acid α-glucosidase (6)
- cirrhosis (6)
- cross reactions (6)
- dried blood spot testing (6)
- glucosidases (6)
- hepatocellular carcinoma (6)
- hepatocellular-carcinoma (6)
- mouse model (6)
- muscle, skeletal (6)
- neonatal screening (6)
- recombinant (6)
- therapeutics (6)
- alpha-galactosidase (5)
- antibodies (5)
- gene (5)
- genes (5)
- genetics (5)
- health outcome assessment (5)
- immune response (5)
- liver diseases (5)
- mutations (5)
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Lexile Range
- 1301-1500+ (8)
- 1101-1300 (3)
간행물
- molecular genetics and metabolism (90)
- molecular genetics & metabolism (51)
- genetics in medicine (29)
간행물

Count Name
- molecular genetics and metabolism (90)
- molecular genetics & metabolism (51)
- genetics in medicine (29)
- genetics in medicine official journal of the american college of medical genetics (15)
- muscle & nerve (11)
- molecular genetics and metabolism reports (10)
- molecular therapy (10)
- human molecular genetics (8)
- journal of child neurology (8)
- journal of pediatrics (8)
- prenatal diagnosis (7)
- faseb journal (6)
- journal of gastroenterology (6)
- journal of inherited metabolic disease (6)
- plos one (6)
- genetics in medicine open (5)
- science translational medicine (5)
- annals of translational medicine (4)
- clinical chemistry (4)
- human pathology (4)
- jama network open (4)
- journal of clinical neuromuscular disease (4)
- journal of neuromuscular diseases (4)
- neuropediatrics (4)
- new england journal of medicine (4)
- proceedings of the national academy of sciences of the united states of america (4)
- seminars in perinatology (4)
- american journal of human genetics (3)
- arthritis & rheumatism (3)
- clinical biochemistry (3)
- clinical therapeutics (3)
- european journal of pediatrics (3)
- frontiers in genetics (3)
- genetics in medicine: official journal of the american college of medical genetics and genomics (3)
- journal of hepatology (3)
- journal of veterinary internal medicine (3)
- obstetrical & gynecological survey (3)
- practical laboratory medicine (3)
- american journal of medical genetics - c (2)
- jci insight (2)
- jimd reports, volume 14 (2)
- jimd reports, volume 31 (2)
- journal of inherited metabolic disease: official journal of the society for the study of inborn errors of metabolism (2)
- journal of pediatric gastroenterology and nutrition (2)
- journal of pediatric hematology oncology (2)
- journal of pediatric hematology/oncology (2)
- pediatric research (2)
- the journal of pediatrics (2)
- jimd reports, volume 37 (1)
- the new england journal of medicine (1)
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출판사
- academic press inc elsevier science (68)
- academic press inc. (51)
- wiley-blackwell (25)
출판사

Count Name
- academic press inc elsevier science (68)
- academic press inc. (51)
- wiley-blackwell (25)
- elsevier (22)
- academic press (17)
- cell press (16)
- lippincott williams & wilkins (15)
- elsevier inc. (14)
- elsevier b.v. (13)
- wiley (9)
- nature publishing group (8)
- escholarship, university of california (7)
- elsevier inc (6)
- springer nature (5)
- oxford university press / usa (4)
- sage publications inc. (4)
- american medical association (3)
- elsevier science bv (3)
- john wiley & sons (3)
- nature publishing group us (3)
- public library of science (3)
- springer berlin heidelberg (3)
- american association for the advancement of science (2)
- federation of american societies for experimental biology (2)
- georg thieme verlag stuttgart (2)
- ios press (2)
- irl press at oxford university press (2)
- mosby (2)
- new england journal of medicine (2)
- sage (2)
- springer netherlands (2)
- springer-verlag (2)
- ame publishing company (1)
- american society for clinical investigation (1)
- elsevier b.v (1)
- elsevier science (1)
- em inc usa (1)
- frontiers media s.a. (1)
- frontiers research foundation (1)
- hippokrates verlag (1)
- massachusetts medical society (1)
- mdpi ag (1)
- oxford university press (1)
- springer international (1)
- springer japan (1)
- springer verlag (1)
- university of washington, seattle (1)
- w b saunders (1)
- w.b. saunders (1)
- wiley periodicals (1)
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언어
- english (373)
Publication Year
- 2013 (8)
- 2011 (7)
- 2012 (7)
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Count Name
- 2013 (8)
- 2011 (7)
- 2012 (7)
- 2014 (7)
- 2021 (6)
- 2020 (4)
- 2023 (4)
- 2007 (3)
- 2019 (3)
- 2022 (3)
- 2024 (3)
- 2008 (2)
- 2009 (2)
- 2010 (2)
- 2015 (2)
- 2016 (2)
- 2003 (1)
- 2017 (1)
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수록데이터베이스
- Science Citation Index Expanded (129)
- MEDLINE (94)
- Academic Search Complete (67)
수록데이터베이스

Count Name
- Science Citation Index Expanded (129)
- MEDLINE (94)
- Academic Search Complete (67)
- Supplemental Index (41)
- Complementary Index (29)
- ScienceDirect (17)
- Journals@OVID (12)
- CINAHL Plus with Full Text (8)
- Springer Nature Journals (8)
- eScholarship (7)
- JSTOR Journals (4)
- Springer Nature eBooks (3)
- Directory of Open Access Journals (1)
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PsycINFO

전체선택

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV