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Items: 1 to 20 of 744

1.

Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.

Wang H, Sency V, McJarrow P, Bright A, Huang Q, Cechner K, Szekely J, Brace J, Wang A, Liu D, Rowan A, Wiznitzer M, Zhou A, Xin B.

JIMD Rep. 2018 Sep 13. doi: 10.1007/8904_2018_134. [Epub ahead of print]

PMID:
30209782
2.

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.

Edmiston R, Wilkinson S, Jones S, Tylee K, Broomfield A, Bruce IA.

JIMD Rep. 2018 Sep 13. doi: 10.1007/8904_2018_130. [Epub ahead of print]

PMID:
30209781
3.

Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort.

Traschütz A, Heneka MT.

JIMD Rep. 2018 Sep 6. doi: 10.1007/8904_2018_133. [Epub ahead of print]

PMID:
30187371
4.

Reversible Cerebral White Matter Abnormalities in Homocystinuria.

Ismayilova N, MacKinnon AD, Mundy H, Fallon P.

JIMD Rep. 2018 Sep 6. doi: 10.1007/8904_2018_135. [Epub ahead of print]

PMID:
30187370
5.

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

Wild KT, Ganetzky RD, Yudkoff M, Ierardi-Curto L.

JIMD Rep. 2018 Sep 6. doi: 10.1007/8904_2018_132. [Epub ahead of print]

PMID:
30187369
6.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA.

JIMD Rep. 2018 Aug 17. doi: 10.1007/8904_2018_128. [Epub ahead of print]

PMID:
30117111
7.

Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.

Madsen CV, Christensen EI, Nielsen R, Mogensen H, Rasmussen ÅK, Feldt-Rasmussen U.

JIMD Rep. 2018 Aug 17. doi: 10.1007/8904_2018_129. [Epub ahead of print]

PMID:
30117110
8.

Cobalamin D Deficiency Identified Through Newborn Screening.

Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC.

JIMD Rep. 2018 Aug 11. doi: 10.1007/8904_2018_126. [Epub ahead of print]

PMID:
30097992
9.

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

Anderson R, Rust S, Ashworth J, Clayton-Smith J, Taylor RL, Clayton PT, Morris AAM.

JIMD Rep. 2018 Aug 11. doi: 10.1007/8904_2018_127. [Epub ahead of print]

PMID:
30097991
10.

Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.

Jaramillo-Calle DA, Aguirre Acevedo DC.

JIMD Rep. 2018 Aug 2. doi: 10.1007/8904_2018_125. [Epub ahead of print]

PMID:
30069833
11.

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Marques-da-Silva D, Francisco R, Dos Reis Ferreira V, Forbat L, Lagoa R, Videira PA, Witters P, Jaeken J, Cassiman D.

JIMD Rep. 2018 Jul 15. doi: 10.1007/8904_2018_121. [Epub ahead of print]

PMID:
30008170
12.

The Second Case of Saposin A Deficiency and Altered Autophagy.

Kose M, Demir SA, Akinci G, Eraslan C, Yilmaz U, Ceylaner S, Yildirim ES, Seyrantepe V.

JIMD Rep. 2018 Jul 12. doi: 10.1007/8904_2018_114. [Epub ahead of print]

PMID:
29995202
13.

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Cox GF, Clarke LA, Giugliani R, McGovern MM.

JIMD Rep. 2018 Jul 12. doi: 10.1007/8904_2018_120. [Epub ahead of print]

14.

Psychosocial Functioning in Parents of MPS III Patients.

Conijn T, Nijmeijer SCM, van Oers HA, Wijburg FA, Haverman L.

JIMD Rep. 2018 Jul 7. doi: 10.1007/8904_2018_119. [Epub ahead of print]

PMID:
29980992
15.

Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.

Morita M, Matsumoto S, Sato A, Inoue K, Kostsin DG, Yamazaki K, Kawaguchi K, Shimozawa N, Kemp S, Wanders RJ, Kojima H, Okabe T, Imanaka T.

JIMD Rep. 2018 Jun 21. doi: 10.1007/8904_2018_118. [Epub ahead of print]

PMID:
29926352
16.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_115. [Epub ahead of print]

PMID:
29923093
17.

Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).

Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_113. [Epub ahead of print]

PMID:
29923092
18.

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, Martins E.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_112. [Epub ahead of print]

PMID:
29923091
19.

Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain.

Winner LK, Marshall NR, Jolly RD, Trim PJ, Duplock SK, Snel MF, Hemsley KM.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_110. [Epub ahead of print]

PMID:
29923090
20.

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_111. [Epub ahead of print]

PMID:
29923089

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