JIMD Reports, Volume 25:
Saved in:
| Format: | Electronic eBook |
|---|---|
| Language: | English |
| Published: |
Berlin, Heidelberg
Springer Berlin Heidelberg
2016
|
| Edition: | 1st ed. 2016 |
| Series: | JIMD Reports
25 |
| Subjects: | |
| Online Access: | BTU01 HTW01 UBR01 URL des Erstveröffentlichers Inhaltsverzeichnis Abstract |
| Physical Description: | 1 Online-Ressource (VI, 106 p) |
| ISBN: | 9783662496688 |
| ISSN: | 2192-8304 |
| DOI: | 10.1007/978-3-662-49668-8 |
Staff View
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| 650 | 4 | |a Metabolic diseases | |
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Record in the Search Index
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|---|---|
| adam_text | JIMD REPORTS, VOLUME 25
/
: 2016
TABLE OF CONTENTS / INHALTSVERZEICHNIS
COENZYME Q10 AND PYRIDOXAL PHOSPHATE DEFICIENCY IS A COMMON FEATURE IN
MUCOPOLYSACCHARIDOSIS TYPE III
PITFALLS IN DIAGNOSING NEURAMINIDASE DEFICIENCY: PSYCHOSOMATICS AND
NORMAL SIALIC ACID EXCRETION
NEW CASES OF DHTKD1 MUTATIONS IN PATIENTS WITH 2-KETOADIPIC ACIDURIA
SCREENING MUCOPOLYSACCHARIDOSIS TYPE IX IN PATIENTS WITH JUVENILE
IDIOPATHIC ARTHRITIS
THE PATHOBIOCHEMISTRY OF GASTROINTESTINAL SYMPTOMS IN A PATIENT WITH
NIEMANN-PICK TYPE C DISEASE
IMPROVEMENT OF DIFFUSION TENSOR IMAGING (DTI) PARAMETERS WITH
DECOPPERING TREATMENT IN WILSON’S DISEASE
VITAMIN E IMPROVES CLINICAL OUTCOME OF PATIENTS AFFECTED BY GLYCOGEN
STORAGE DISEASE TYPE IB
URINE BETA2-MICROGLOBULIN IS AN EARLY MARKER OF RENAL INVOLVEMENT IN LPI
THE SPECTRUM OF KRABBE DISEASE IN GREECE: BIOCHEMICAL AND MOLECULAR
FINDINGS
EXERCISE INTOLERANCE AND MYOGLOBINURIA ASSOCIATED WITH A NOVEL
MATERNALLY INHERITED MT-ND1 MUTATION
PNPO DEFICIENCY AND CIRRHOSIS: EXPANDING THE CLINICAL PHENOTYPE?
LIVER FIBROSIS ASSOCIATED WITH IRON ACCUMULATION DUE TO LONG-TERM
HEME-ARGINATE TREATMENT IN ACUTE INTERMITTENT PORPHYRIA: A CASE SERIES
GM2-GANGLIOSIDOSIS, AB VARIANT: CLINICAL, OPHTHALMOLOGICAL, MRI, AND
MOLECULAR FINDINGS
LC-MS/MS ANALYSIS OF CEREBROSPINAL FLUID METABOLITES IN THE PTERIN
BIOSYNTHETIC PATHWAY
REDUCTION OF PLASMA GLOBOTRIAOSYLSPHINGOSINE LEVELS AFTER SWITCHING FROM
AGALSIDASE ALFA TO AGALSIDASE BETA AS ENZYME REPLACEMENT THERAPY FOR
FABRY DISEASE
DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT.
JIMD REPORTS, VOLUME 25
/
: 2016
ABSTRACT / INHALTSTEXT
JIMD REPORTS PUBLISHES CASE AND SHORT RESEARCH REPORTS IN THE AREA OF
INHERITED METABOLIC DISORDERS. CASE REPORTS HIGHLIGHT SOME UNUSUAL OR
PREVIOUSLY UNRECORDED FEATURE RELEVANT TO THE DISORDER, OR SERVE AS AN
IMPORTANT REMINDER OF CLINICAL OR BIOCHEMICAL FEATURES OF A MENDELIAN
DISORDER
DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT.
|
| any_adam_object | 1 |
| author_GND | (DE-588)1114696420 (DE-588)107577408X (DE-588)130300748 (DE-588)118132202 |
| building | Verbundindex |
| bvnumber | BV043547118 |
| collection | ZDB-2-SBL |
| ctrlnum | (ZDB-2-SBL)978-3-662-49668-8 (OCoLC)950698365 (DE-599)BVBBV043547118 |
| dewey-full | 611.01816 599.935 |
| dewey-hundreds | 600 - Technology (Applied sciences) 500 - Natural sciences and mathematics |
| dewey-ones | 611 - Human anatomy, cytology, histology 599 - Mammalia |
| dewey-raw | 611.01816 599.935 |
| dewey-search | 611.01816 599.935 |
| dewey-sort | 3611.01816 |
| dewey-tens | 610 - Medicine and health 590 - Animals |
| discipline | Biologie Medizin |
| doi_str_mv | 10.1007/978-3-662-49668-8 |
| edition | 1st ed. 2016 |
| format | Electronic eBook |
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| id | DE-604.BV043547118 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-10T07:28:32Z |
| institution | BVB |
| isbn | 9783662496688 |
| issn | 2192-8304 |
| language | English |
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| physical | 1 Online-Ressource (VI, 106 p) |
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| publishDate | 2016 |
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| publisher | Springer Berlin Heidelberg |
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| series2 | JIMD Reports |
| spelling | JIMD Reports, Volume 25 edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters 1st ed. 2016 Berlin, Heidelberg Springer Berlin Heidelberg 2016 1 Online-Ressource (VI, 106 p) txt rdacontent c rdamedia cr rdacarrier JIMD Reports 25 2192-8304 Medicine Human genetics Molecular biology Metabolic diseases Pediatrics Biomedicine Human Genetics Metabolic Diseases Molecular Medicine Medizin Morava-Kozicz, Eva Sonstige (DE-588)1114696420 oth Baumgartner, Matthias R. 1966- Sonstige (DE-588)107577408X oth Patterson, Marc Sonstige oth Rahman, Shamima Sonstige oth Zschocke, Johannes 1964- Sonstige (DE-588)130300748 oth Peters, Verena 1968- Sonstige (DE-588)118132202 oth Erscheint auch als Druckausgabe 978-3-662-49667-1 https://doi.org/10.1007/978-3-662-49668-8 Verlag URL des Erstveröffentlichers Volltext Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028962481&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028962481&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Abstract |
| spellingShingle | JIMD Reports, Volume 25 Medicine Human genetics Molecular biology Metabolic diseases Pediatrics Biomedicine Human Genetics Metabolic Diseases Molecular Medicine Medizin |
| title | JIMD Reports, Volume 25 |
| title_auth | JIMD Reports, Volume 25 |
| title_exact_search | JIMD Reports, Volume 25 |
| title_full | JIMD Reports, Volume 25 edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| title_fullStr | JIMD Reports, Volume 25 edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| title_full_unstemmed | JIMD Reports, Volume 25 edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| title_short | JIMD Reports, Volume 25 |
| title_sort | jimd reports volume 25 |
| topic | Medicine Human genetics Molecular biology Metabolic diseases Pediatrics Biomedicine Human Genetics Metabolic Diseases Molecular Medicine Medizin |
| topic_facet | Medicine Human genetics Molecular biology Metabolic diseases Pediatrics Biomedicine Human Genetics Metabolic Diseases Molecular Medicine Medizin |
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