• Issue

    Journal of Inherited Metabolic Disease: Volume 42, Issue 3

    391-578
    May 2019
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ISSUE INFORMATION

Free Access

Issue Information

  • First Published: 25 April 2019

LETTERS TO THE EDITOR

Fetal gene therapy for neurodegenerative lysosomal storage diseases

Julien Baruteau,  Simon N. Waddington, 
  • Pages: 391-393
  • First Published: 27 December 2018

Concerning “Triheptanoin vs trioctanoin for long-chain fatty acid oxidation disorders: A double blinded, randomized controlled trial” by Gillingham et al.

John M. Shoffner, 
  • Pages: 394-395
  • First Published: 05 March 2019

Response to Letter to the editor

Melanie B. Gillingham,  Stephen B. Heitner,  Michael R. Lasarev,  Cary O. Harding,  Jerry Vockley, 
  • Pages: 396-397
  • First Published: 22 February 2019

ORIGINAL ARTICLES

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

Andrea Pilotto,  Nenad Blau,  Edytha Leks,  Claudia Schulte,  Christian Deuschl,  Carl Zipser,  David Piel,  Peter Freisinger,  Gwendolyn Gramer,  Stefan Kölker,  Dorothea Haas,  Peter Burgard,  Peter Nawroth,  Hoffmann Georg,  Klaus Scheffler,  Daniela Berg,  Friedrich Trefz, 
  • Pages: 398-406
  • First Published: 01 February 2019

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

Raquel Yahyaoui,  Javier Blasco-Alonso,  Carmen Benito,  Enrique Rodríguez-García,  Fernando Andrade,  Luis Aldámiz-Echevarría,  María C. Muñoz-Hernández,  Ana I. Vega,  Celia Pérez-Cerdá,  María L. García-Martín,  Belén Pérez, 
  • Pages: 407-413
  • First Published: 22 January 2019
Open Access

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Jeannette C. Bleeker,  Irene L. Kok,  Sacha Ferdinandusse,  W. Ludo van der Pol,  Inge Cuppen,  Annet M. Bosch,  Mirjam Langeveld,  Terry G. J. Derks,  Monique Williams,  Maaike de Vries,  Margot F. Mulder,  Estela R. Gozalbo,  Monique G. M. de Sain-van der Velden,  Alexander J. Rennings,  Peter J. C. I. Schielen,  Eugenie Dekkers,  Riekelt H. Houtkooper,  Hans R. Waterham,  Mia L. Pras-Raves,  Ronald J. A. Wanders,  Peter M. van Hasselt,  Marja Schoenmakers,  Frits A. Wijburg,  Gepke Visser, 
  • Pages: 414-423
  • First Published: 13 February 2019

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Johan L. K. Van Hove,  Cynthia L. Freehauf,  Can Ficicioglu,  Loren D. M. Pena,  Kerrie L. Moreau,  Thomas K. Henthorn,  Uwe Christians,  Hua Jiang,  Tina M. Cowan,  Sarah P. Young,  Michelle Hite,  Marisa W. Friederich,  Sally P. Stabler,  Elaine B. Spector,  Kathryn E. Kronquist,  Janet A. Thomas,  Peggy Emmett,  Mary J. Harrington,  Laura Pyle,  Geralyn Creadon-Swindell,  Michael F. Wempe,  Kenneth N. MacLean, 
  • Pages: 424-437
  • First Published: 14 March 2019
Open Access

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Nicholas V. Stence,  Laura Z. Fenton,  Claire Levek,  Suhong Tong,  Curtis R. Coughlin II,  Julia B. Hennermann,  Saskia B. Wortmann,  Johan L.K. Van Hove, 
  • Pages: 438-450
  • First Published: 09 February 2019
Open Access

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Anouk Kuiper,  Stephanie Grünewald,  Elaine Murphy,  Maraike A. Coenen,  Hendriekje Eggink,  Rodi Zutt,  Maria E. Rubio-Gozalbo,  Annet M. Bosch,  Monique Williams,  Terry G. J. Derks,  Robin H. L. Lachmann,  Martijn C. G. J. Brouwers,  Mirian C. H. Janssen,  Marina A. Tijssen,  Tom J. de Koning, 
  • Pages: 451-458
  • First Published: 12 January 2019

Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage

Jun-Ho Cho,  Young Mok Lee,  Matthew F. Starost,  Brian C. Mansfield,  Janice Y. Chou, 
  • Pages: 459-469
  • First Published: 14 January 2019

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia

Lisa Zhang,  Jun-Ho Cho,  Irina Arnaoutova,  Brian C. Mansfield,  Janice Y. Chou, 
  • Pages: 470-479
  • First Published: 03 February 2019

Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome

William Todd Cade,  Kathryn L. Bohnert,  Linda R. Peterson,  Bruce W. Patterson,  Adam J. Bittel,  Adewole L. Okunade,  Lisa de las Fuentes,  Karen Steger-May,  Adil Bashir,  George G. Schweitzer,  Shaji K. Chacko,  Ronald J. Wanders,  Christina A. Pacak,  Barry J. Byrne,  Dominic N. Reeds, 
  • Pages: 480-493
  • First Published: 29 March 2019

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

R. A. Wevers,  M. Christensen,  U. F. H. Engelke,  S. Geuer,  K. L. M. Coene,  J. T. Kwast,  A. M. Lund,  L. E. L. M. Vissers, 
  • Pages: 494-500
  • First Published: 07 March 2019

Growth impairment in individuals with citrin deficiency

Chikahiko Numakura,  Gen Tamiya,  Masao Ueki,  Tomoo Okada,  Shun-ichi Maisawa,  Kanako Kojima-Ishii,  Jun Murakami,  Reiko Horikawa,  Daisuke Tokuhara,  Koichi Ito,  Masanori Adachi,  Takahiro Abiko,  Tetsuo Mitsui,  Kiyoshi Hayasaka, 
  • Pages: 501-508
  • First Published: 09 January 2019

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

Gerarda Cappuccio,  Taraka R. Donti,  Leroy Hubert,  Qin Sun,  Sarah H. Elsea, 
  • Pages: 509-518
  • First Published: 25 January 2019
Open Access

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Paul R. Harmatz,  Christina Lampe,  Rossella Parini,  Reena Sharma,  Elisa L. Teles,  Julie Johnson,  Debbie Sivam,  Zlatko Sisic, 
  • Pages: 519-526
  • First Published: 04 March 2019
Open Access

Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease

Julia B. Hennermann,  Laila Arash-Kaps,  György Fekete,  Andreas Schaaf,  Andreas Busch,  Thomas Frischmuth, 
  • Pages: 527-533
  • First Published: 12 January 2019
Open Access

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial

Raphael Schiffmann,  Ozlem Goker-Alpan,  Myrl Holida,  Pilar Giraldo,  Laura Barisoni,  Robert B. Colvin,  Charles J. Jennette,  Gustavo Maegawa,  Simeon A. Boyadjiev,  Derlis Gonzalez,  Kathy Nicholls,  Ahmad Tuffaha,  Mohamed G. Atta,  Bonita Rup,  Martha R. Charney,  Alona Paz,  Mali Szlaifer,  Sari Alon,  Einat Brill-Almon,  Raul Chertkoff,  Derralynn Hughes, 
  • Pages: 534-544
  • First Published: 04 March 2019

Hierarchical processing of visual stimuli in nephropathic cystinosis

Aakash Sathappan,  Doris Trauner, 
  • Pages: 545-552
  • First Published: 22 January 2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Mari-Anne Vals,  Angel Ashikov,  Pilvi Ilves,  Dagmar Loorits,  Qiang Zeng,  Rita Barone,  Karin Huijben,  Jolanta Sykut-Cegielska,  Luísa Diogo,  Abdallah F. Elias,  Robert S. Greenwood,  Stephanie Grunewald,  Peter M. van Hasselt,  Jiddeke M. van de Kamp,  Grazia Mancini,  Agnieszka Okninska,  Sander Pajusalu,  Pauline M. Rudd,  Cecilie F. Rustad,  Ramona Salvarinova,  Bert B.A. de Vries,  Nicole I. Wolf,  EPGEN Study ,  Bobby G. Ng,  Hudson H. Freeze,  Dirk J. Lefeber,  Katrin Õunap, 
  • Pages: 553-564
  • First Published: 12 January 2019

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe,  Amit Kumar,  Vijay Kumar,  Yu J. Choi,  Michael A. Swanson,  Marisa W. Friederich,  Keith Hyland,  Wyatt W. Yue,  Johan L. K. Van Hove,  Curtis R. Coughlin II, 
  • Pages: 565-574
  • First Published: 21 January 2019

IMAGES IN METABOLIC MEDICINE

Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Ara Ko,  Sang-Jun Lee,  Young-Mock Lee, 
  • Pages: 575-576
  • First Published: 27 December 2018

CORRIGENDA

Free Access

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

  • Page: 577
  • First Published: 25 April 2019

Free Access

Factor VIII and vWF deficiency in STT3A-CDG

  • Page: 578
  • First Published: 25 April 2019