語系:
繁體中文
English
說明(常見問題)
登入
回首頁
切換:
標籤
|
MARC模式
|
ISBD
JIMD reports.. Volume 30
~
Morava, Eva.
JIMD reports.. Volume 30
紀錄類型:
書目-語言資料,印刷品 : 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, 108 p. :ill., digital ; : 24 cm.;
Contained By:
Springer eBooks
標題:
Metabolism, Inborn errors of. -
電子資源:
http://dx.doi.org/10.1007/978-3-662-53681-0
ISBN:
9783662536810
JIMD reports.. Volume 30
JIMD reports.
Volume 30[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2016. - vi, 108 p. :ill., digital ;24 cm. - JIMD reports,v.302192-8304 ;. - JIMD reports ;v.6..
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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: 9783662536810
Standard No.: 10.1007/978-3-662-53681-0doiSubjects--Topical Terms:
885710
Metabolism, Inborn errors of.
LC Class. No.: RC627.8
Dewey Class. No.: 616.39042
JIMD reports.. Volume 30
LDR
:02934nam a2200325 a 4500
001
867997
003
DE-He213
005
20161115103802.0
006
m d
007
cr nn 008maaau
008
170720s2016 gw s 0 eng d
020
$a
9783662536810
$q
(electronic bk.)
020
$a
9783662536803
$q
(paper)
024
7
$a
10.1007/978-3-662-53681-0
$2
doi
035
$a
978-3-662-53681-0
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 30
$h
[electronic resource] /
$c
edited by Eva Morava ... [et al.].
260
$a
Berlin, Heidelberg :
$c
2016.
$b
Springer Berlin Heidelberg :
$b
Imprint: Springer,
300
$a
vi, 108 p. :
$b
ill., digital ;
$c
24 cm.
490
1
$a
JIMD reports,
$x
2192-8304 ;
$v
v.30
505
0
$a
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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
885710
650
0
$a
Metabolism
$x
Disorders.
$3
645499
650
1 4
$a
Biomedicine.
$3
593880
650
2 4
$a
Human Genetics.
$3
593893
650
2 4
$a
Metabolic Diseases.
$3
593967
650
2 4
$a
Pediatrics.
$3
644839
650
2 4
$a
Molecular Medicine.
$3
668353
700
1
$a
Morava, Eva.
$3
1072062
710
2
$a
SpringerLink (Online service)
$3
593884
773
0
$t
Springer eBooks
830
0
$a
JIMD reports ;
$v
v.6.
$3
885709
856
4 0
$u
http://dx.doi.org/10.1007/978-3-662-53681-0
950
$a
Biomedical and Life Sciences (Springer-11642)
筆 0 讀者評論
多媒體
評論
新增評論
分享你的心得
Export
取書館別
處理中
...
變更密碼[密碼必須為2種組合(英文和數字)及長度為10碼以上]
登入