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JIMD Reports
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July 2, 2016
Gastrointestinal Health in Classic Galactosemia
Kelly A Shaw, Jennifer G Mulle, Michael P Epstein, et al.
JIMD Reports
|
November 11, 2018
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation
G V Baydakova, T A Ivanova, S V Mikhaylova, et al.
JIMD Reports
|
November 19, 2016
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, et al.
JIMD Reports
|
November 19, 2016
Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature
Alison Christy, William Nyhan, Jenny Wilson
JIMD Reports
|
November 19, 2016
Vitamin B<sub>12</sub> Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
E Maines, G Morandi, G Gugelmo, et al.
JIMD Reports
|
October 9, 2016
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
Ana Claudia Marquim F Araújo, Wilma M C Araújo, Ursula M Lanfer Marquez, et al.
JIMD Reports
|
December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
Jayesh Sheth, Mehul Mistri, Krati Shah, et al.
JIMD Reports
|
December 9, 2016
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, et al.
JIMD Reports
|
February 18, 2014
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood
Anne Roubergue, Bertrand Philibert, Agnès Gautier, et al.
JIMD Reports
|
February 19, 2017
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
Charles Shyng, Shannon L Macauley, Joshua T Dearborn, et al.
Page
of 125
Search research articles
Search
Showing results (711-720 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
July 2, 2016
Gastrointestinal Health in Classic Galactosemia
Kelly A Shaw, Jennifer G Mulle, Michael P Epstein, et al.
JIMD Reports
|
November 11, 2018
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation
G V Baydakova, T A Ivanova, S V Mikhaylova, et al.
JIMD Reports
|
November 19, 2016
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, et al.
JIMD Reports
|
November 19, 2016
Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature
Alison Christy, William Nyhan, Jenny Wilson
JIMD Reports
|
November 19, 2016
Vitamin B<sub>12</sub> Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
E Maines, G Morandi, G Gugelmo, et al.
JIMD Reports
|
October 9, 2016
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
Ana Claudia Marquim F Araújo, Wilma M C Araújo, Ursula M Lanfer Marquez, et al.
JIMD Reports
|
December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
Jayesh Sheth, Mehul Mistri, Krati Shah, et al.
JIMD Reports
|
December 9, 2016
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, et al.
JIMD Reports
|
February 18, 2014
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood
Anne Roubergue, Bertrand Philibert, Agnès Gautier, et al.
JIMD Reports
|
February 19, 2017
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
Charles Shyng, Shannon L Macauley, Joshua T Dearborn, et al.
Page
of 125