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Article ; Online: Clinical and radiological characteristics and outcomes of patients with recurrent or relapsing tumefactive demyelination.

Pervin, Irin / Ramanathan, Sudarshini / Cappelen-Smith, Cecilia / Vucic, Steve / Reddel, Stephen W / Hardy, Todd A

Multiple sclerosis and related disorders

2024 Volume 82, Page(s) 105408

Abstract: Background: Relapsing or recurrent tumefactive demyelination is rare and has not been studied beyond individual case reports.: Objective: We examined the clinical course, neuroimaging, cerebrospinal fluid (CSF), treatment and outcomes of patients ... ...

Abstract	Background: Relapsing or recurrent tumefactive demyelination is rare and has not been studied beyond individual case reports. Objective: We examined the clinical course, neuroimaging, cerebrospinal fluid (CSF), treatment and outcomes of patients with recurrent tumefactive demyelinating lesions (TDLs). Methods: We used PubMed to identify reports of recurrent TDLs and included the details of an additional, unpublished patient. Results: We identified 18 cases (11F, 7 M). The median age at onset of the index TDL was 37 years (range 12-72) and most were solitary lesions 72 % (13/18). CSF-restricted oligoclonal bands (OCBs) were detected in 25 % (4/16). Only one of those tested (n = 13) was positive for AQP4-IgG. A moderate-to-marked treatment response (high dose corticosteroid with or without additional plasmapheresis, IVIg or disease modifying therapies) was evident in 89 % of treated patients. Median EDSS at the median follow-up of 36 months (range 6-144) was 2 (range 1-10). Most remained ambulatory (EDSS < 4 in 13/18), but 1 patient died. Conclusion: The median age of patients with relapsing TDLs is similar to that of typical MS, but differences include a lower female:male sex ratio, larger lesions, and a comparative lack of CSF-restricted OCBs. Outcomes vary among this group of patients ranging from minimal disability through to death.
MeSH term(s)	Humans ; Male ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Radiography ; Neuroimaging ; Adrenal Cortex Hormones ; Recurrence ; Demyelinating Diseases/diagnostic imaging ; Demyelinating Diseases/therapy ; Multiple Sclerosis ; Magnetic Resonance Imaging ; Retrospective Studies
Chemical Substances	Adrenal Cortex Hormones
Language	English
Publishing date	2024-01-05
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2645330-7
ISSN	2211-0356 ; 2211-0348
ISSN (online)	2211-0356
ISSN	2211-0348
DOI	10.1016/j.msard.2023.105408
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Article ; Online: A dorsolateral medullary lesion causing persistent down-beating nystagmus.

Young, Allison S / Reddel, Stephen W / Jonker, Benjamin / Thompson, Elizabeth / Welgampola, Miriam S

Journal of neurology

2021 Volume 268, Issue 11, Page(s) 4371–4373

MeSH term(s)	Humans ; Medulla Oblongata/diagnostic imaging ; Nystagmus, Pathologic/etiology ; Semicircular Canals
Language	English
Publishing date	2021-08-09
Publishing country	Germany
Document type	Letter
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-021-10626-2
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Article ; Online: Distinguishing CNS neurosarcoidosis from multiple sclerosis and an approach to "overlap" cases.

Chan, Fiona / Riminton, D Sean / Ramanathan, Sudarshini / Reddel, Stephen W / Hardy, Todd A

Journal of neuroimmunology

2022 Volume 369, Page(s) 577904

Abstract: Neurosarcoidosis is an important diagnosis to exclude in the work-up for suspected multiple sclerosis (MS). The distinction between the two conditions is usually possible due to characteristic clinical manifestations, magnetic resonance imaging (MRI) ... ...

Abstract	Neurosarcoidosis is an important diagnosis to exclude in the work-up for suspected multiple sclerosis (MS). The distinction between the two conditions is usually possible due to characteristic clinical manifestations, magnetic resonance imaging (MRI) findings, and the results of other supportive investigations such as CT-PET. Definitive diagnosis can be made by histopathological examination, but this is not always practical. Misdiagnosis can occur when the clinical characteristics and MRI findings of both conditions overlap. Those patients with characteristic findings of MS but extraneural histopathological evidence of sarcoidosis are a particularly difficult diagnostic group. Diagnostic clarity is essential to inform treatment, especially as certain treatments for one disorder can exacerbate the other. This article summarises the clinical, laboratory and radiological findings that aid the clinician in distinguishing between the two conditions. It also discusses the literature on the potential for sarcoidosis and MS to co-exist in some patients, and how to approach the treatment of these "overlap" patients.
MeSH term(s)	Central Nervous System Diseases/complications ; Central Nervous System Diseases/diagnostic imaging ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis/complications ; Multiple Sclerosis/diagnostic imaging ; Sarcoidosis/diagnostic imaging
Language	English
Publishing date	2022-06-02
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	8335-5
ISSN	1872-8421 ; 0165-5728
ISSN (online)	1872-8421
ISSN	0165-5728
DOI	10.1016/j.jneuroim.2022.577904
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Article: Symptom Burden, Health Status, and Productivity in Patients with Uncontrolled and Controlled Severe Asthma in NOVELTY.

Ding, Bo / Chen, Stephanie / Srivastava, Divyansh / Quinton, Anna / Cook, William / Papi, Alberto / Reddel, Helen K

Journal of asthma and allergy

2023 Volume 16, Page(s) 611–624

Abstract: Background: Few studies have quantified symptom burden, health status, and productivity in patients with uncontrolled and controlled severe asthma. Up-to-date, real-world, global evidence is needed.: Objective: To quantify symptom burden, health ... ...

Abstract	Background: Few studies have quantified symptom burden, health status, and productivity in patients with uncontrolled and controlled severe asthma. Up-to-date, real-world, global evidence is needed. Objective: To quantify symptom burden, health status, and productivity in patients with uncontrolled and controlled severe asthma using baseline data from the NOVEL observational longiTudinal studY (NOVELTY; NCT02760329). Methods: NOVELTY included patients aged ≥18 years (or ≥12 years in some countries) from primary care and specialist centres in 19 countries, with a physician-assigned diagnosis of asthma, asthma+chronic obstructive pulmonary disease (COPD), or COPD. Disease severity was physician-assessed. Uncontrolled severe asthma was defined by an Asthma Control Test (ACT) score <20 and/or severe physician-reported exacerbations in the previous year; controlled severe asthma required an ACT score ≥20 and no severe exacerbations. Assessment of symptom burden included Respiratory Symptoms Questionnaire (RSQ) and ACT score. Assessment of health status included St George's Respiratory Questionnaire (SGRQ), EuroQoL 5 Dimensions 5 Levels Health Questionnaire (EQ-5D-5L) index value, and EQ-5D-5L Visual Analog Score (EQ-VAS). Assessment of productivity loss included absenteeism, presenteeism, overall work impairment, and activity impairment. Results: Of 1652 patients with severe asthma, asthma was uncontrolled in 1078 (65.3%; mean age 52.6 years, 65.8% female) and controlled in 315 (19.1%; mean age 55.2 years, 56.5% female). With uncontrolled versus controlled severe asthma, symptom burden was higher (mean RSQ score 7.7 vs 2.5), health status more impaired (mean SGRQ total score 47.5 vs 22.4; mean EQ-5D-5L index value 0.68 vs 0.90; mean EQ-VAS score 64.1 vs 78.1), and productivity lower (presenteeism 29.3% vs 10.5%). Conclusion: Our findings highlight the symptom burden of uncontrolled severe asthma compared with controlled severe asthma and its impact on patient health status and productivity, and support the need for interventions to improve control of severe asthma.
Language	English
Publishing date	2023-06-11
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2494877-9
ISSN	1178-6965
ISSN	1178-6965
DOI	10.2147/JAA.S401445
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Article ; Online: Burden of Uncontrolled Severe Asthma With and Without Elevated Type-2 Inflammatory Biomarkers.

Ding, Bo / Chen, Stephanie / Rapsomaniki, Eleni / Quinton, Anna / Cook, William / Reddel, Helen K / Papi, Alberto

The journal of allergy and clinical immunology. In practice

2023 Volume 12, Issue 4, Page(s) 970–982

Abstract: Background: Many patients with asthma have type-2 airway inflammation, identified by the presence of biomarkers, including history of allergy, high blood eosinophil (EOS) count, and high fractional exhaled nitric oxide levels.: Objective: To assess ... ...

Abstract	Background: Many patients with asthma have type-2 airway inflammation, identified by the presence of biomarkers, including history of allergy, high blood eosinophil (EOS) count, and high fractional exhaled nitric oxide levels. Objective: To assess disease burden in relation to type-2 inflammatory biomarker status (history of allergy, blood EOS count, and fractional exhaled nitric oxide level) in patients with uncontrolled and controlled severe asthma in the NOVEL observational longiTudinal studY (NOVELTY) (NCT02760329). Methods: Asthma diagnosis and severity were physician-reported. Control was defined using Asthma Control Test score (uncontrolled <20, controlled ≥20) and/or 1 or more severe physician-reported exacerbation in the previous year. Biomarker distribution (history of allergy, blood EOS count, and fractional exhaled nitric oxide level), symptom burden (Asthma Control Test score, modified Medical Research Council dyspnea scale), health status (St George's Respiratory Questionnaire score), exacerbations, and health care resource utilization were assessed. Results: Of 647 patients with severe asthma, 446 had uncontrolled and 123 had controlled asthma. Among those with uncontrolled asthma, 196 (44%) had 2 or more positive biomarkers, 187 (42%) had 1 positive biomarker, 325 (73%) had low blood EOS, and 63 (14%) were triple-negative. Disease burden was similarly high across uncontrolled subgroups, irrespective of biomarker status, with poor symptom control (Asthma Control Test score 14.9-16.6), impaired health status (St George's Respiratory Questionnaire total score 46.7-49.4), clinically important breathlessness (modified Medical Research Council grade ≥2 in 47.3%-57.1%), and 1 or more severe exacerbation (70.6%-76.2%). Conclusions: Type-2 inflammatory biomarkers did not differentiate disease burden in patients with severe asthma. Patients with low type-2 inflammatory biomarker levels have few biologic therapy options; their needs should be addressed.
MeSH term(s)	Humans ; Asthma/diagnosis ; Asthma/epidemiology ; Biomarkers ; Eosinophilia ; Eosinophils ; Hypersensitivity ; Longitudinal Studies ; Nitric Oxide
Chemical Substances	Biomarkers ; Nitric Oxide (31C4KY9ESH)
Language	English
Publishing date	2023-12-22
Publishing country	United States
Document type	Journal Article ; Observational Study
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2023.12.021
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Article: A Compound Heterozygous Mutation in

Perez-Siles, G / Ellis, M / Ashe, A / Grosz, B / Vucic, S / Kiernan, M C / Morris, K A / Reddel, S W / Kennerson, M L

Frontiers in genetics

2022 Volume 12, Page(s) 801253

Abstract: Spinal Muscular Atrophy (SMA) is a heterogeneous group of neuromuscular diseases characterized by degeneration of anterior horn cells of the spinal cord, leading to muscular atrophy and weakness. Although the major cause of SMA is autosomal recessive ... ...

Abstract	Spinal Muscular Atrophy (SMA) is a heterogeneous group of neuromuscular diseases characterized by degeneration of anterior horn cells of the spinal cord, leading to muscular atrophy and weakness. Although the major cause of SMA is autosomal recessive exon deletions or loss-of-function mutations of
Language	English
Publishing date	2022-01-19
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.801253
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Article ; Online: Vaping and e-cigarettes: a life-threatening hypersensitivity reaction.

Qiu, Jessica / Barnes, Stephanie / Wijesinghe, Rajiv / Limaye, Sandhya / Reddel, Stephen W

Internal medicine journal

2020 Volume 50, Issue 10, Page(s) 1294–1295

MeSH term(s)	Electronic Nicotine Delivery Systems ; Humans ; Smoking Cessation ; Tomography, X-Ray Computed ; Vaping/adverse effects
Language	English
Publishing date	2020-10-28
Publishing country	Australia
Document type	Letter
ZDB-ID	2045436-3
ISSN	1445-5994 ; 1444-0903
ISSN (online)	1445-5994
ISSN	1444-0903
DOI	10.1111/imj.15027
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Article ; Online: Diagnostic Performance of a Machine Learning Algorithm (Asthma/Chronic Obstructive Pulmonary Disease [COPD] Differentiation Classification) Tool Versus Primary Care Physicians and Pulmonologists in Asthma, COPD, and Asthma/COPD Overlap.

Kocks, Janwillem W H / Cao, Hui / Holzhauer, Björn / Kaplan, Alan / FitzGerald, J Mark / Kostikas, Konstantinos / Price, David / Reddel, Helen K / Tsiligianni, Ioanna / Vogelmeier, Claus F / Bostel, Sebastien / Mastoridis, Paul

The journal of allergy and clinical immunology. In practice

2023 Volume 11, Issue 5, Page(s) 1463–1474.e3

Abstract: Background: The differential diagnosis of asthma and chronic obstructive pulmonary disease (COPD) poses a challenge in clinical practice and its misdiagnosis results in inappropriate treatment, increased exacerbations, and potentially death.: ... ...

Abstract	Background: The differential diagnosis of asthma and chronic obstructive pulmonary disease (COPD) poses a challenge in clinical practice and its misdiagnosis results in inappropriate treatment, increased exacerbations, and potentially death. Objective: To investigate the diagnostic accuracy of the Asthma/COPD Differentiation Classification (AC/DC) tool compared with primary care physicians and pulmonologists in asthma, COPD, and asthma-COPD overlap. Methods: The AC/DC machine learning-based diagnostic tool was developed using 12 parameters from electronic health records of more than 400,000 patients aged 35 years and older. An expert panel of three pulmonologists and four general practitioners from five countries evaluated 119 patient cases from a prospective observational study and provided a confirmed diagnosis (n = 116) of asthma (n = 53), COPD (n = 43), asthma-COPD overlap (n = 7), or other (n = 13). Cases were then reviewed by 180 primary care physicians and 180 pulmonologists from nine countries and by the AC/DC tool, and diagnostic accuracies were compared with reference to the expert panel diagnoses. Results: Average diagnostic accuracy of the AC/DC tool was superior to that of primary care physicians (median difference, 24%; 95% posterior credible interval: 17% to 29%; P < .0001) and was noninferior and superior (median difference, 12%; 95% posterior credible interval: 6% to 17%; P < .0001 for noninferiority and P = .0006 for superiority) to that of pulmonologists. Average diagnostic accuracies were 73%, 50%, and 61% by AC/DC tool, primary care physicians, and pulmonologists versus expert panel diagnosis, respectively. Conclusion: The AC/DC tool demonstrated superior diagnostic accuracy compared with primary care physicians and pulmonologists in the diagnosis of asthma and COPD in patients aged 35 years and greater and has the potential to support physicians in the diagnosis of these conditions in clinical practice.
MeSH term(s)	Humans ; Pulmonologists ; Physicians, Primary Care ; Pulmonary Disease, Chronic Obstructive/drug therapy ; Asthma/drug therapy ; General Practitioners
Language	English
Publishing date	2023-01-28
Publishing country	United States
Document type	Observational Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2023.01.017
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Article ; Online: Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Marchant, Rhett G / Bryen, Samantha J / Bahlo, Melanie / Cairns, Anita / Chao, Katherine R / Corbett, Alastair / Davis, Mark R / Ganesh, Vijay S / Ghaoui, Roula / Jones, Kristi J / Kornberg, Andrew J / Lek, Monkol / Liang, Christina / MacArthur, Daniel G / Oates, Emily C / O'Donnell-Luria, Anne / O'Grady, Gina L / Osei-Owusu, Ikeoluwa A / Rafehi, Haloom /

Reddel, Stephen W / Roxburgh, Richard H / Ryan, Monique M / Sandaradura, Sarah A / Scott, Liam W / Valkanas, Elise / Weisburd, Ben / Young, Helen / Evesson, Frances J / Waddell, Leigh B / Cooper, Sandra T

Annals of clinical and translational neurology

2024

Abstract: Objective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their ... ...

Abstract	Objective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their integration into practice. Methods: In total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research-led massively parallel sequencing: neuromuscular disorder gene panel, exome, genome, and/or RNA sequencing to identify causal variants. Protein and RNA studies were also deployed when required. Results: Integration of exome sequencing and auxiliary genome, RNA and/or protein studies identified causal or likely causal variants in 62% (152 out of 247) of families. Exome sequencing alone informed 55% (83 out of 152) of diagnoses, with remaining diagnoses (45%; 69 out of 152) requiring genome sequencing, RNA and/or protein studies to identify variants and/or support pathogenicity. Arrestingly, novel disease genes accounted for <4% (6 out of 152) of diagnoses while 36.2% of solved families (55 out of 152) harbored at least one splice-altering or structural variant in a known neuromuscular disorder gene. We posit that contemporary neuromuscular disorder gene-panel sequencing could likely provide 66% (100 out of 152) of our diagnoses today. Interpretation: Our results emphasize thorough clinical phenotyping to enable deep scrutiny of all rare genetic variation in phenotypically consistent genes. Post-exome auxiliary investigations extended our diagnostic yield by 81% overall (34-62%). We present a diagnostic algorithm that details deployment of genomic and auxiliary investigations to obtain these diagnoses today most effectively. We hope this provides a practical guide for clinicians as they gain greater access to clinical genome and transcriptome sequencing.
Language	English
Publishing date	2024-03-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.52041
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Article ; Online: Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.

Grosz, Bianca R / Stevanovski, Igor / Negri, Sara / Ellis, Melina / Barnes, Stephanie / Reddel, Stephen / Vucic, Steve / Nicholson, Garth A / Cortese, Andrea / Kumar, Kishore R / Deveson, Ira W / Kennerson, Marina L

Journal of the peripheral nervous system : JPNS

2022 Volume 27, Issue 2, Page(s) 120–126

Abstract: Biallelic mutations in sorbitol dehydrogenase (SORD) have been recently identified as a common cause of recessive axonal Charcot-Marie-Tooth neuropathy (CMT2). We aimed to assess a novel long-read sequencing approach to overcome current limitations in ... ...

Abstract	Biallelic mutations in sorbitol dehydrogenase (SORD) have been recently identified as a common cause of recessive axonal Charcot-Marie-Tooth neuropathy (CMT2). We aimed to assess a novel long-read sequencing approach to overcome current limitations in SORD neuropathy diagnostics due to the SORD2P pseudogene and the phasing of biallelic mutations in recessive disease. We conducted a screen of our Australian whole exome sequencing (WES) CMT cohort to identify individuals with homozygous or compound heterozygous SORD variants. Individuals detected with SORD mutations then underwent long-read sequencing, clinical assessment, and serum sorbitol analysis. An individual was detected with compound heterozygous truncating mutations in SORD exon 7, NM_003104.5:c.625C>T (p.Arg209Ter) and NM_003104.5:c.757del (p.Ala253GlnfsTer27). Subsequent Oxford Nanopore Tech (ONT) long-read sequencing was used to successfully differentiate SORD from the highly homologous non-functional SORD2P pseudogene and confirmed that the mutations were biallelic through haplotype-resolved analysis. The patient presented with axonal sensorimotor polyneuropathy (CMT2) and ulnar neuropathy without compression at the elbow. Burning neuropathic pain in the forearms and feet was also reported and was exacerbated by alcohol consumption and improved with alcohol cessation. UPLC-tandem mass spectrometry confirmed that the patient had elevated serum sorbitol levels (12.0 mg/L) consistent with levels previously observed in patients with biallelic SORD mutations. This represents a novel clinical presentation and expands the phenotype associated with biallelic SORD mutations causing CMT2. Our study is the first report of long-read sequencing for an individual with CMT and demonstrates the utility of this approach for clinical genomics.
MeSH term(s)	Australia ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/genetics ; Humans ; L-Iditol 2-Dehydrogenase/genetics ; Mutation ; Pedigree ; Phenotype ; Sorbitol ; Whole Exome Sequencing
Chemical Substances	Sorbitol (506T60A25R) ; L-Iditol 2-Dehydrogenase (EC 1.1.1.14)
Language	English
Publishing date	2022-03-05
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	1364009-4
ISSN	1529-8027 ; 1085-9489
ISSN (online)	1529-8027
ISSN	1085-9489
DOI	10.1111/jns.12485
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