1.

Record Nr.

UNINA9910520081203321

Autore

Gold Daniel <1947->

Titolo

Neuro-ophthalmology and neuro-otology : a case-based guide for clinicians and scientists / / Daniel Gold

Pubbl/distr/stampa

Cham, Switzerland : , : Springer International Publishing, , [2022]

©2022

ISBN

9783030768751

9783030768744

Descrizione fisica

1 online resource (476 pages)

Disciplina

617.7

Soggetti

Neuroophthalmology

Oftalmopaties

Otologia

Neurologia

Llibres electrònics

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia



2.

Record Nr.

UNIORUON00005833

Autore

GUBERT, Renzo

Titolo

Proverbi e cultura rurale nel Trentino oggi : Repertorio dei proverbi usati nel Trentino e indagine scientifica sul loro uso e sul significato loro attribuito  in aree rurali sottoposte ad intensa urbanizzazione / Renzo Gubert, Angela Baldassari, Silvano Bonatta

Pubbl/distr/stampa

S. Michele all'Adige, Museo degli Usi e Costumi della Gente Trentina, 1986

Descrizione fisica

209 p. : ill. ; 22 cm

Classificazione

PE XIV

Altri autori (Persone)

BALDESSARI, Angela

BONATTA, Silvana

Soggetti

PROVERBI ITALIANI

Lingua di pubblicazione

Italiano

Formato

Materiale a stampa

Livello bibliografico

Monografia



3.

Record Nr.

UNIORUON00319053

Autore

BAREA, Arturo

Titolo

La forja de un rebelde / Arturo Barrea

Pubbl/distr/stampa

Mexico, : Montjuich, 1959

Descrizione fisica

805 p. ; 21 cm.

Lingua di pubblicazione

Spagnolo

Formato

Materiale a stampa

Livello bibliografico

Monografia

4.

Record Nr.

UNINA9910438025403321

Titolo

JIMD reports . Volume 11 / / Johannes Zschocke ... [et al.], editors

Pubbl/distr/stampa

Berlin, : Springer, 2013

ISBN

3-642-37328-3

Edizione

[1st ed. 2013.]

Descrizione fisica

1 online resource (172 p.)

Collana

JIMD reports, , 2192-8304 ; ; v. 11

Altri autori (Persone)

ZschockeJohannes

Disciplina

616.39042

Soggetti

Metabolism, Inborn errors of

Lingua di pubblicazione

Tedesco

Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

Description based upon print version of record.

Nota di bibliografia

Includes bibliographical references.

Nota di contenuto

Contents; Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment; Abstract; Introduction; Case Report; Discussion; Contributors; References; Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis; Contributions; Conflict of Interest; References

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD



Deficiency but is not Detected on Routine SequencingAbstract; Introduction; Case Report; Discussion; Conclusion; Take-Home Message; Details of the Contributions of Individual Authors; Guarantor for the Article; Conflict of Interests Statement; Ethics Approval; Patient Consent Statement; References; Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures; Abstract; Introduction; Patient Presentation; Discussion; Synopsis; Conflict of Interest

Contributor ́s Statement PageReferences; Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia; Introduction; Material and Methods; Case Reports; Discussion; Concise Sentence Take-Home Message; Reference to Electronic Databases; Conflict of Interest; References; Motor and Speech Disorders in Classic Galactosemia; Abstract; Methods; Statistical Analysis; Results; Speech; Strength; Coordination; Days on Milk; Discussion; Speech; Strength; Coordination; Days on Milk; Common Underlying Etiology; Limitations and Recommendations; One Sentence Synopsis

Details of the Contributions of Individual AuthorsName of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflicts of Interest; Funding; Take-Home Message; References; Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis; Abstract; Introduction; Patient; Methods; Results; Discussion

ConclusionReferences; Early Cardiac Changes in Children with Anderson-Fabry Disease; Abstract; Introduction; Methods; Study Population; Echocardiography; ECG Data and Holter Monitoring; Statistical Analysis; Results; Study Population Characteristics; Progression of Left Ventricular Hypertrophy; 12-Leads ECG Parameters; Holter ECG Parameters; Discussion; Left Ventricular Mass and Left Ventricular Hypertrophy; T Wave Inversion; ECG LV Mass Indexes; 24-h ECG Monitors; Conduction Intervals; N215S Mutation; Limitations; Conclusion; Synopsis; Details of the Contributions of Individual Authors

Guarantor Author

Sommario/riassunto

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.