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001 978-3-662-57880-3
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007 cr nn 008mamaa
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020 _a9783662578803
_9978-3-662-57880-3
050 4 _aRB155-155.8
050 4 _aQH431
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
072 7 _aMFN
_2thema
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aJIMD Reports, Volume 40
_h[electronic resource] /
_cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250 _a1st ed. 2018.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2018.
300 _aVI, 103 p. 20 illus., 13 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aJIMD Reports,
_x2192-8304 ;
_v40
500 _aAcceso multiusuario
505 0 _aNatural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan -- Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation -- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female -- The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria -- Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria -- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening -- Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers -- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features -- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria -- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood -- Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.
520 _aJIMD 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.
541 _fUABC ;
_cTemporal ;
_d01/01/2021-12/31/2023.
650 0 _aHuman genetics.
650 0 _aMetabolic diseases.
650 0 _aPediatrics.
650 0 _aMolecular biology.
650 1 4 _aHuman Genetics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B12008
650 2 4 _aMetabolic Diseases.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H33118
650 2 4 _aPediatrics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H49006
650 2 4 _aMolecular Medicine.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B1700X
700 1 _aMorava, Eva.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aBaumgartner, Matthias.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPatterson, Marc.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aRahman, Shamima.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aZschocke, Johannes.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPeters, Verena.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783662578797
776 0 8 _iPrinted edition:
_z9783662578810
830 0 _aJIMD Reports,
_x2192-8304 ;
_v40
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-57880-3
912 _aZDB-2-SBL
912 _aZDB-2-SXB
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