國立高雄大學圖資館 |

Language: English

Back

JIMD reports.Volume 35

Morava, Eva.

JIMD reports.Volume 35

Record Type:	Electronic resources : Monograph/item
Title/Author:	JIMD reports.edited by Eva Morava ... [et al.].
other author:	Morava, Eva.
Published:	Berlin, Heidelberg :Springer Berlin Heidelberg :2017.
Description:	vi, 117 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of.
Online resource:	http://dx.doi.org/10.1007/978-3-662-55833-1
ISBN:	9783662558331$q(electronic bk.)

JIMD reports.Volume 35
JIMD reports.Volume 35[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2017. - vi, 117 p. :ill., digital ;24 cm. - JIMD reports,v.352192-8304 ;. - JIMD reports ;v.2..

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability -- Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants -- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital -- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature -- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient -- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine -- Previously Unreported Biallelic Mutation in DNAJC19:Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? -- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience -- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening -- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency -- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts -- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria -- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis -- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report -- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother -- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

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: 9783662558331$q(electronic bk.)

Standard No.: 10.1007/978-3-662-55833-1doiSubjects--Topical Terms:

558886
Metabolism, Inborn errors of.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

JIMD reports.Volume 35
LDR:03398nmm a2200325 a 4500 001 522045
003 DE-He213
005 20170905141411.0
006 m d
007 cr nn 008maaau
008 180521s2017 gw s 0 eng d
020 $a 9783662558331$q(electronic bk.)
020 $a 9783662558324$q(paper)
024 7 $a 10.1007/978-3-662-55833-1 $2 doi
035 $a 978-3-662-55833-1
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 2017
245 0 0 $a JIMD reports. $n Volume 35 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2017.
300 $a vi, 117 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.35
505 0 $a Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability -- Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants -- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital -- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature -- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient -- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine -- Previously Unreported Biallelic Mutation in DNAJC19:Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? -- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience -- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening -- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency -- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts -- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria -- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis -- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report -- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother -- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.
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 558886
650 0 $a Metabolism $x Disorders. $3 318679
650 1 4 $a Biomedicine. $3 273648
650 2 4 $a Human Genetics. $3 273658
650 2 4 $a Metabolic Diseases. $3 274217
650 2 4 $a Pediatrics. $3 274247
650 2 4 $a Molecular Medicine. $3 273932
700 1 $a Morava, Eva. $3 744346
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
830 0 $a JIMD reports ; $v v.2. $3 558861
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-55833-1
950 $a Biomedical and Life Sciences (Springer-11642)