JIMD reports. Volume 31 /

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.

Saved in:
Bibliographic Details
Other Authors Morava, Eva (Editor), Baumgartner, Matthias R. (Editor), Patterson, Marc (Editor), Rahman, Shamima (Editor), Zschocke, Johannes (Editor), Peters, Verena (Editor)
Format Electronic eBook
LanguageEnglish
Published Berlin, Germany : Springer, 2017.
SeriesJIMD reports,
Subjects
Metabolism, Inborn errors of.
Metabolism > Disorders.
elektronické knihy
electronic books
Online AccessFull text
ISBN9783662541197
9783662541180
ISSN2192-8304
Physical Description1 online resource (vi, 111 pages) : illustrations (some color)

Cover

LEADER 00000cam a2200000Ii 4500
001 97142
003 CZ-ZlUTB
005 20251008101047.0
006 m o d
007 cr cnu|||unuuu
008 170119s2017 gw a o 000 0 eng d
040 |a GW5XE  |b eng  |e rda  |e pn  |c GW5XE  |d EBLCP  |d N$T  |d IDEBK  |d OCLCF  |d UAB  |d NJR  |d YDX  |d OCLCO  |d COO  |d UPM  |d IOG  |d OCLCO  |d MERER  |d ESU  |d Z5A  |d OCLCO  |d OCLCQ  |d OCLCO  |d JBG  |d IAD  |d OCLCO  |d ICW  |d OCLCO  |d ICN  |d OCLCQ  |d OCLCO  |d OHI  |d OCLCO  |d OTZ  |d OCLCQ  |d VT2  |d OCLCO  |d OCLCQ  |d JG0  |d OCLCO  |d U3W  |d OCLCO  |d OCLCA  |d OCLCQ  |d OCLCO  |d OCLCQ  |d OCLCO  |d OCLCA  |d CAUOI  |d OCLCQ  |d OCLCO  |d KSU  |d OCLCQ  |d OCLCO  |d AU@  |d OCLCO  |d UKMGB  |d OCLCO  |d OCLCQ  |d WYU  |d OCLCA  |d OCLCQ  |d OCLCO  |d ERF  |d OCLCQ  |d OCLCA  |d OCLCQ  |d SRU 
020 |a 9783662541197  |q (electronic bk.) 
020 |z 9783662541180  |q (print) 
024 7 |a 10.1007/978-3-662-54119-7  |2 doi 
035 |a (OCoLC)969124989  |z (OCoLC)969422824  |z (OCoLC)972570474  |z (OCoLC)974651613  |z (OCoLC)981850228  |z (OCoLC)1005794359  |z (OCoLC)1011959673  |z (OCoLC)1048157322  |z (OCoLC)1058221039  |z (OCoLC)1058771310  |z (OCoLC)1066598287  |z (OCoLC)1066621815  |z (OCoLC)1096643858  |z (OCoLC)1096926720 
245 0 0 |a JIMD reports.  |n Volume 31 /  |c Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor. 
264 1 |a Berlin, Germany :  |b Springer,  |c 2017. 
300 |a 1 online resource (vi, 111 pages) :  |b illustrations (some color) 
336 |a text  |b txt  |2 rdacontent 
337 |a počítač  |b c  |2 rdamedia 
338 |a online zdroj  |b cr  |2 rdacarrier 
490 1 |a JIMD Reports,  |x 2192-8304 
505 0 |a Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents -- Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency -- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders -- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders -- Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency -- Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots -- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency -- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels -- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients -- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency -- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? -- Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency -- Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. 
506 |a Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty 
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. 
590 |a SpringerLink  |b Springer Complete eBooks 
650 0 |a Metabolism, Inborn errors of. 
650 0 |a Metabolism  |x Disorders. 
655 7 |a elektronické knihy  |7 fd186907  |2 czenas 
655 9 |a electronic books  |2 eczenas 
700 1 |a Morava, Eva,  |e editor. 
700 1 |a Baumgartner, Matthias R.,  |e editor. 
700 1 |a Patterson, Marc,  |e editor. 
700 1 |a Rahman, Shamima,  |e editor. 
700 1 |a Zschocke, Johannes,  |e editor. 
700 1 |a Peters, Verena,  |e editor. 
776 0 8 |i Printed edition:  |z 9783662541180 
830 0 |a JIMD reports,  |x 2192-8304 
856 4 0 |u https://proxy.k.utb.cz/login?url=https://link.springer.com/10.1007/978-3-662-54119-7 
992 |c NTK-SpringerBLS 
999 |c 97142  |d 97142 
993 |x NEPOSILAT  |y EIZ 

Similar Items