東華大學圖書館 |

語系: 繁體中文

說明(常見問題)

回圖書館首頁

手機版館藏查詢

登入

回首頁

切換: 標籤 | MARC模式 | ISBD

JIMD reports.. Volume 25

Morava, Eva.

FindBook

Google Book

Amazon

博客來

JIMD reports.. Volume 25

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	JIMD reports./ edited by Eva Morava ... [et al.].
其他作者:	Morava, Eva.
出版者:	Berlin, Heidelberg :Springer Berlin Heidelberg : : 2016.,
面頁冊數:	vi, 106 p. :ill., digital ;24 cm.
內容註:	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.
Contained By:	Springer eBooks
標題:	Metabolism, Inborn errors of. -
電子資源:	http://dx.doi.org/10.1007/978-3-662-49668-8
ISBN:	9783662496688

JIMD reports.. Volume 25
JIMD reports.Volume 25[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2016. - vi, 106 p. :ill., digital ;24 cm. - JIMD reports,2192-8304. - JIMD reports..

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.

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.

ISBN: 9783662496688

Standard No.: 10.1007/978-3-662-49668-8doiSubjects--Topical Terms:

639903
Metabolism, Inborn errors of.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

JIMD reports.. Volume 25
LDR:02744nmm a2200325 a 4500 001 2035612
003 DE-He213
005 20160929161921.0
006 m d
007 cr nn 008maaau
008 161117s2016 gw s 0 eng d
020 $a 9783662496688 $q (electronic bk.)
020 $a 9783662496671 $q (paper)
024 7 $a 10.1007/978-3-662-49668-8 $2 doi
035 $a 978-3-662-49668-8
040 $a GP $c GP
041 0 $a eng
050 4 $a RC627.8
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
082 0 4 $a 616.39042 $2 23
090 $a RC627.8 $b .J61 2016
245 0 0 $a JIMD reports. $n Volume 25 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2016.
300 $a vi, 106 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304
505 0 $a 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.
520 $a 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.
650 0 $a Metabolism, Inborn errors of. $3 639903
650 0 $a Metabolism $x Disorders. $3 930053
650 1 4 $a Biomedicine. $3 890831
650 2 4 $a Human Genetics. $3 891169
650 2 4 $a Metabolic Diseases. $3 895373
650 2 4 $a Pediatrics. $3 559143
650 2 4 $a Molecular Medicine. $3 890952
700 1 $a Morava, Eva. $3 2191131
710 2 $a SpringerLink (Online service) $3 836513
773 0 $t Springer eBooks
830 0 $a JIMD reports. $3 2191132
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-49668-8
950 $a Biomedical and Life Sciences (Springer-11642)