| Description |
1 online resource : illustrations |
| Series |
JIMD reports, 2192-8304 ; v. 7 |
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JIMD reports ; v. 7.
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| Contents |
Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency / Eugène F. Diekman, Carolien C.A. Boelen, Berthil H.C.M.T. Prinsen, Lodewijk IJlst and Marinus Duran, et al. -- Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease? / Carla Pinto Moura, Carlos Soares, Daniela Seixas, Margarida Ayres-Bastos and João Paulo Oliveira -- Hereditary Intrinsic Factor Deficiency in Chaldeans / Amy C. Sturm, Elizabeth C. Baack, Michael B. Armstrong, Deborah Schiff and Ayesha Zia, et al. -- Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene / Christiaan P Sentner, Yvonne J Vos, Klary N Niezen-Koning, Bart Mol and G Peter A. Smit -- Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency / A A M Morris, S E Olpin, M J Bennett, A Santani and J Stahlschmidt, et al |
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Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease / Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, Bárbara Corrêa Krug and Cristina B.O. Netto, et al. -- Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease / Mónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, Marian A. Kroos and Sandra Yaneth Ospina, et al. -- Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer / Stuart Lavery, Dima Abdo, Mara Kotrotsou, Geoff Trew and Michalis Konstantinidis, et al. -- The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I / S. Yano, C. Li and Z. Pavlova -- Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome / J.H. Paul Wilson, Maarten Sinaasappel, Fred K. Lotgering and Janneke G. Langendonk |
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Autism Spectrum Disorder in a Child with Propionic Acidemia / M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet and A. Qari, et al. -- Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease / Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, Daniela D'Agnano and Maria Teresa Giannini, et al. -- [beta]-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype / Tereza Moore, Jonathan A. Bernstein, Sylvie Casson-Parkin and Tina M. Cowan -- In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography / Aneal Khan, Zachary Weinstein, David A. Hanley, Robin Casey and Colleen McNeil, et al. -- A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) / A Complex Case of Variant GALE / Ying Liu, Kristi Bentler, Bradford Coffee, Juliet S. Chhay and Kyriakie Sarafoglou, et al |
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Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease / Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher and Frank Breunig, et al. -- High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase / Katja M J Heitink-Pollé, Berthil H.C.M.T. Prinsen, Tom J de Koning, Peter M van Hasselt and Marc B Bierings -- Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU / Low Phe Diet for Adults with PKU / Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken and Bengt Frode Kase -- Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients / Laura Deroma, Annalisa Sechi, Andrea Dardis, Daniela Macor and Giulia Liva, et al. -- 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes / Eduardo Calpena, Mercedes Casado, Dolores Martínez-Rubio, Andrés Nascimento and Jaume Colomer, et al |
| Summary |
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 |
| Analysis |
Medicine |
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Human genetics |
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Human physiology |
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Metabolic diseases |
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Pediatrics |
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Biomedicine |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
| In |
Springer eBooks |
| Subject |
Metabolism, Inborn errors of.
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Metabolism, Inborn Errors
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MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
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Médecine.
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Metabolism, Inborn errors of
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medicines (material)
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| Form |
Electronic book
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| Author |
Brown, Garry
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Morava, Eva
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Zschocke, Johannes.
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Gibson, Kenneth Michael, 1955-
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| ISBN |
9783642324420 |
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3642324428 |
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364232441X |
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9783642324413 |
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9781283631785 |
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1283631784 |
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9783642324437 |
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3642324436 |
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9786613944238 |
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6613944238 |
|
