• Issue

    Journal of Inherited Metabolic Disease: Volume 43, Issue 3

    383-645
    May 2020
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ISSUE INFORMATION

Free Access

Issue Information

  • First Published: 06 May 2020

EDITORIAL

Open Access

Social media, alternative metrics and inborn errors of metabolism

James Nurse,  Eva Morava, 
  • Pages: 383-384
  • First Published: 22 April 2020

REVIEW ARTICLES

Open Access

Therapeutic potential of triheptanoin in metabolic and neurodegenerative diseases

Zeinab Wehbe,  Sara Tucci, 
  • Pages: 385-391
  • First Published: 28 November 2019
Open Access

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Minela Haskovic,  Ana I. Coelho,  Jörgen Bierau,  Jo M. Vanoevelen,  Laura K. M. Steinbusch,  Luc J. I. Zimmermann,  Eduardo Villamor-Martinez,  Gerard T. Berry,  M. Estela Rubio-Gozalbo, 
  • Pages: 392-408
  • First Published: 06 December 2019

ORIGINAL ARTICLES

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

Lulu Kang,  Yupeng Liu,  Ming Shen,  Yi Liu,  Ruxuan He,  Jinqing Song,  Ying Jin,  Mengqiu Li,  Yao Zhang,  Hui Dong,  Xueqin Liu,  Hui Yan,  Jiong Qin,  Hong Zheng,  Yongxing Chen,  Dongxiao Li,  Haiyan Wei,  Huifeng Zhang,  Liying Sun,  Zhijun Zhu,  Desheng Liang,  Yanling Yang, 
  • Pages: 409-423
  • First Published: 17 October 2019
Open Access

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Hanneke A. Haijes,  Femke Molema,  Mirjam Langeveld,  Mirian C. Janssen,  Annet M. Bosch,  Francjan van Spronsen,  Margot F. Mulder,  Nanda M. Verhoeven-Duif,  Judith J.M. Jans,  Ans T. van der Ploeg,  Margreet A. Wagenmakers,  M. Estela Rubio-Gozalbo,  Martijn C. G. J. Brouwers,  Maaike C. de Vries,  Janneke G. Langendonk,  Monique Williams,  Peter M. van Hasselt, 
  • Pages: 424-437
  • First Published: 11 December 2019
Open Access

Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare disease

Maya T. Gerstein,  Anne R. Markus,  Kan Z. Gianattasio,  Cynthia Le Mons,  Janice Bartos,  David M. Stevens,  Nicholas Ah Mew, 
  • Pages: 438-458
  • First Published: 27 December 2019

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases

Constantinos Papadopoulos,  Karim Wahbi,  Anthony Behin,  Wulfran Bougouin,  Tanya Stojkovic,  Sarah Leonard-Louis,  Nawal Berber,  Anne Lombès,  Denis Duboc,  Claude Jardel,  Bruno Eymard,  Pascal Laforêt, 
  • Pages: 459-466
  • First Published: 25 October 2019

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

Yiming Lin,  Yaru Liu,  Lin Zhu,  Kaixing Le,  Yuyan Shen,  Chiju Yang,  Xigui Chen,  Haili Hu,  Qingqing Ma,  Xueqin Shi,  Zhenzhen Hu,  Jianbin Yang,  Yaping Shen,  Chien-Hsing Lin,  Chenggang Huang,  Xinwen Huang, 
  • Pages: 467-477
  • First Published: 17 December 2019

A high prevalence of arterial hypertension in patients with mitochondrial diseases

Caroline Chong-Nguyen,  Caroline Stalens,  Yves Goursot,  Wulfran Bougouin,  Tanya Stojkovic,  Anthony Béhin,  Fanny Mochel,  Nawal Berber,  Bruno Eymard,  Denis Duboc,  Pascal Laforêt,  Karim Wahbi, 
  • Pages: 478-485
  • First Published: 24 November 2019

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse

Pablo Ranea-Robles,  Chunli Yu,  Naomi van Vlies,  Frédéric M. Vaz,  Sander M. Houten, 
  • Pages: 486-495
  • First Published: 17 December 2019
Open Access

Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure

Zachary Oaks,  John Jimah,  Craig C. Grossman,  Miguel Beckford,  Ryan Kelly,  Sanjay Banerjee,  Brian Niland,  Gabriella Miklossy,  Zarife Kuloglu,  Aydan Kansu,  William Lee,  Laszlo Szonyi,  Katalin Banki,  Andras Perl, 
  • Pages: 496-506
  • First Published: 26 November 2019
Open Access

The 1-13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Mendy M. Welsink-Karssies,  Dewi van Harskamp,  Sacha Ferdinandusse,  Carla E. M. Hollak,  Hidde H. Huidekoper,  Mirian C. H. Janssen,  E. Marleen Kemper,  Janneke G. Langendonk,  M. Estela Rubio-Gozalbo,  Maaike C. de Vries,  Frits A. Wijburg,  Henk Schierbeek,  Annet M. Bosch, 
  • Pages: 507-517
  • First Published: 17 December 2019
Open Access

A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism

Shauna A. Rasmussen,  Jennifer M. I. Daenzer,  Jessica A. MacWilliams,  S. Taylor Head,  Martine B. Williams,  Aron M. Geurts,  Jason P. Schroeder,  David Weinshenker,  Judith L. Fridovich-Keil, 
  • Pages: 518-528
  • First Published: 17 December 2019

Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK

Sher Li Oh,  Li Yi Cheng,  Jie Fu J Zhou,  Wolfgang Henke,  Thilo Hagen, 
  • Pages: 529-539
  • First Published: 27 November 2019

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

Alessandra Pennisi,  Bruno Maranda,  Jean-François Benoist,  Véronique Baudouin,  Odile Rigal,  Samia Pichard,  René Santer,  Francesca Romana Lepri,  Antonio Novelli,  Hélène Ogier de Baulny,  Carlo Dionisi-Vici,  Manuel Schiff, 
  • Pages: 540-548
  • First Published: 09 December 2019

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures

Aleena A. Khan,  Tracy Boggs,  Michael Bowling,  Stephanie Austin,  Mihaela Stefanescu,  Laura Case,  Priya S. Kishnani, 
  • Pages: 549-557
  • First Published: 11 November 2019

Expanding the clinical utility of glucosylsphingosine for Gaucher disease

Jennifer T. Saville,  Belinda K. McDermott,  Sharon J. Chin,  Janice M. Fletcher,  Maria Fuller, 
  • Pages: 558-563
  • First Published: 09 November 2019

Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy

Reena V. Kartha,  James Joers,  Marcia R. Terluk,  Abigail Travis,  Kyle Rudser,  Paul J. Tuite,  Neal J. Weinreb,  Jeanine R. Jarnes,  James C. Cloyd,  Gülin Öz, 
  • Pages: 564-573
  • First Published: 15 October 2019
Open Access

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease

Alexandria Colaco,  Ecem Kaya,  Elias Adriaenssens,  Lianne C. Davis,  Stefania Zampieri,  María E. Fernández-Suárez,  Chong Y. Tan,  Patrick B. Deegan,  Forbes D. Porter,  Antony Galione,  Bruno Bembi,  Andrea Dardis,  Frances M. Platt, 
  • Pages: 574-585
  • First Published: 09 November 2019

Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C

Bruna Donida,  Marco Raabe,  Bárbara Tauffner,  Marcelo A. de Farias,  Andryele Z. Machado,  Fernanda Timm,  Rejane G. Kessler,  Tatiane G. Hammerschmidt,  Luiza S. Reinhardt,  Verônica B. Brito,  Rodrigo V. Portugal,  Andressa Bernardi,  Rudimar Frozza,  Dinara J. Moura,  Roberto Giugliani,  Fernanda Poletto,  Carmen R. Vargas, 
  • Pages: 586-601
  • First Published: 13 January 2020
Open Access

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots

Heiko Brennenstuhl,  Dirk Kohlmüller,  Gwendolyn Gramer,  Sven F. Garbade,  Steffen Syrbe,  Patrik Feyh,  Stefan Kölker,  Jürgen G. Okun,  Georg F. Hoffmann,  Thomas Opladen, 
  • Pages: 602-610
  • First Published: 18 December 2019
Open Access

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations

Marjolein A.W. van den Boogert,  Cleo L. Crunelle,  Lubna Ali,  Lars E. Larsen,  Sacha D. Kuil,  Johannes H.M. Levels,  Alinda W.M. Schimmel,  Vassiliki Konstantopoulou,  Maryse Guerin,  Jan Albert Kuivenhoven,  Geesje M. Dallinga-Thie,  Erik S.G. Stroes,  Dirk J. Lefeber,  Adriaan G. Holleboom, 
  • Pages: 611-617
  • First Published: 04 December 2019
Open Access

Pharmacokinetics and distribution of 2-hydroxypropyl-β-cyclodextrin following a single intrathecal dose to cats

Mark L. Kao,  Susan Stellar,  Eric Solon,  Alfred Lordi,  Nicole Kasica,  Gary Swain,  Jessica H. Bagel,  Brittney L. Gurda,  Charles H. Vite, 
  • Pages: 618-634
  • First Published: 09 November 2019

Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy

Adrian R. Laciak,  David A. Korasick,  Kent S. Gates,  John J. Tanner, 
  • Pages: 635-644
  • First Published: 25 October 2019

CORRIGENDUM

Free Access

CORRIGENDUM

  • Page: 645
  • First Published: 06 May 2020