JIMD Reports

JIMD Reports

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders.

Author: Eva Morava

Publisher: Springer

ISBN: 366258364X

Category: Medical

Page: 119

View: 489

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.
Categories: Medical

JIMD Reports

JIMD Reports

... Johannes Zschocke Verena Peters Editors. JIMD. Reports. Volume 42 JIMD Reports Volume 42 Eva Morava Editor-in-Chief Matthias Baumgartner •. Front Cover.

Author: Eva Morava

Publisher: Springer

ISBN: 9783662583654

Category: Medical

Page: 119

View: 980

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.
Categories: Medical

JIMD Reports

JIMD Reports

2 Biochemical and molecular characterization of F42 mice. (a) Schematic of the transgene with the position of PCR and sequencing primers.

Author: Eva Morava

Publisher: Springer

ISBN: 9783662561386

Category: Medical

Page: 120

View: 745

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.
Categories: Medical

JIMD Reports

JIMD Reports

Total cellular CoA has been measured in control and in SLC25A42-mutant fibroblasts. Values were normalized to the median of the control in each independent ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662586174

Category: Medical

Page: 119

View: 678

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.
Categories: Medical

JIMD Reports

JIMD Reports

Table 1 The HGD gene mutations identified in the 42 AKU patients Patient ID Variant 1 Protein Variant 2 Protein Other remarks 001 Sib of 022 c.359G->T C120F ...

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783662482278

Category: Medical

Page: 128

View: 604

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.
Categories: Medical

JIMD Reports Case and Research Reports Volume 13

JIMD Reports   Case and Research Reports  Volume 13

The VABS-II, a parent-reported outcome, was selected as an adaptive measure for the ... If chronological age is under 42 months, the BSID-III was selected.

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783642541490

Category: Medical

Page: 167

View: 175

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.
Categories: Medical

JIMD Reports

JIMD Reports

... 14 <15.3 14 <18.6 Left atrium diameter (mm) 17 ND ND 16 ND <15.7 ND 30 <21.2 30 <23.4 Left ventricle shortening fraction (%) 7.2 ND 7.1 19 9.1 28–42 ND ...

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783662437483

Category: Medical

Page: 119

View: 128

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.
Categories: Medical

JIMD Reports

JIMD Reports

42 Other molecular analyses for IMD 33 Other bloodspot tests 33 Note: Data were missing on this survey question for one of the participating centres In ...

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783662471722

Category: Medical

Page: 129

View: 342

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.
Categories: Medical

JIMD Reports

JIMD Reports

24 Chard, Swiss (Beta vulgaris L.) 36 Peppers, sweet, yellow (Capsicum 42 Palm heart (Euterpe 98 annuum) edulis) Jackfruit (Arctocarpus heterophyllus) 49 ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662555866

Category: Medical

Page: 115

View: 893

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.
Categories: Medical

JIMD Reports

JIMD Reports

... number Age (years) Mutation Right eye refraction Left eye refraction Confirmed or obligatory carriers f/3 43 [E140K] E E m/3 42 [E140K] +0.75 +0.5 m/5 ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662504093

Category: Medical

Page: 112

View: 925

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.
Categories: Medical

JIMD Reports

JIMD Reports

... after seizure m.3243ASG RRF UEC: 21 5 F 1959 MELAS 21 MTTL | COX- NK BL: 20 41/42 NK m.3243AS-G RRF MU: 80 6 F 1960 MELAS 21 MTTL I NK NK BL: 23 (PM) 42 ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662498330

Category: Medical

Page: 113

View: 411

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.
Categories: Medical

JIMD Reports

JIMD Reports

... 57 29 0.4261 Huicholes 97 43 45 42 43 12 12 128 66 66 34 0.7265 Mayas 139 ... José Elías García-Ortiz participated in the study 0.0 5 JIMD Reports 125 ...

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783662474679

Category: Medical

Page: 127

View: 377

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.
Categories: Medical

JIMD Reports

JIMD Reports

Two psychologists not otherwise involved in the study assigned 42 randomly chosen statements to the 14 categories. Inter-rater reliability (Cohen 1988) was ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662541197

Category: Medical

Page: 111

View: 367

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.
Categories: Medical

JIMD Reports Volume 41

JIMD Reports  Volume 41

Among patients with chronic visceral ASMD, the mild R608del mutation was present in 42% (13/31) of cases. There was no overlap of genotypes between the ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662580813

Category: Medical

Page: 129

View: 268

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.
Categories: Medical

JIMD Reports

JIMD Reports

J Inherit Metab Dis 33:S35–S42 Tomatsu S, Montaño AM, Oikawa H et al (2011) Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current ...

Author: Johannes Zschocke

Publisher: Springer

ISBN: 9783662445877

Category: Medical

Page: 111

View: 914

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.
Categories: Medical

JIMD Reports

JIMD Reports

Synopsis This report demonstrates an instance of long-term successful treatment of ... Arch Dis Child 42:201–207 Bennett CL, Chen Y, Hahn S, Glass IA, ...

Author: Johannes Zschocke

Publisher: Springer Science & Business Media

ISBN: 9783642373343

Category: Medical

Page: 123

View: 215

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.
Categories: Medical

JIMD Reports

JIMD Reports

Nat Genet 42:1131–1134 He M, Rutledge SL, Kelly DR et al (2007) A new genetic ... MD, PhD, MHSc, FCP Competing interests: 10 JIMD Reports Compliance with ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662528471

Category: Medical

Page: 135

View: 648

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.
Categories: Medical

JIMD Reports

JIMD Reports

Original scores of the MetabQoL 1.0 (never/not applicable 1⁄40, seldom 1⁄41, sometimes 1⁄42, often 1⁄43, always 1⁄44) were rescaled to values between 0 and ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662563595

Category: Medical

Page: 123

View: 405

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.
Categories: Medical

JIMD Reports

JIMD Reports

In this study, we report clinical, biochemical, and genetic findings in three ... ALT 13ULN, total bilirubin 42 mmol/L, conjugated bilirubin 21 mmol/L, ...

Author: Johannes Zschocke

Publisher: Springer Science & Business Media

ISBN: 9783642373282

Category: Medical

Page: 172

View: 838

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.
Categories: Medical

JIMD Reports

JIMD Reports

... 2017/Published online: 15 July 2017 Currently, the only disease-specific treatment for NPC is the iminosugar,. DOI 10.1007/8904_2017_42 RESEARCH REPORT ...

Author: Eva Morava

Publisher: Springer

ISBN: 9783662575772

Category: Medical

Page: 116

View: 621

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.
Categories: Medical