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Results 1 - 20 of 363  for All Library Resources

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1
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

JIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 9783662566091 ;ISBN: 3662566095 ;EISSN: 2192-8312 ;EISBN: 9783662566107 ;EISBN: 3662566109 ;DOI: 10.1007/8904_2017_27 ;PMID: 28456887

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2
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients
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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

JIMD Reports, Volume 39, 2018, Vol.39, p.13-17 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_41 ;PMID: 28685491

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3
Mortality in Patients with Morquio Syndrome A
Mortality in Patients with Morquio Syndrome A
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Mortality in Patients with Morquio Syndrome A

JIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662437506 ;ISBN: 3662437503 ;EISSN: 2192-8312 ;EISBN: 3662437511 ;EISBN: 9783662437513 ;DOI: 10.1007/8904_2014_298 ;PMID: 24718838

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4
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

JIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662437506 ;ISBN: 3662437503 ;EISSN: 2192-8312 ;EISBN: 3662437511 ;EISBN: 9783662437513 ;DOI: 10.1007/8904_2014_302 ;PMID: 24718839

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5
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review
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Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review

JIMD Reports, Volume 39, 2018, Vol.39, p.107-116 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_52 ;PMID: 28840576

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6
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan
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Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan

JIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 9783662578797 ;ISBN: 3662578794 ;EISSN: 2192-8312 ;EISBN: 9783662578803 ;EISBN: 3662578808 ;DOI: 10.1007/8904_2017_54 ;PMID: 28856607

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7
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

JIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2016 ;ISSN: 2192-8304 ;ISBN: 9783662555859 ;ISBN: 3662555859 ;EISSN: 2192-8312 ;EISBN: 9783662555866 ;EISBN: 3662555867 ;DOI: 10.1007/8904_2016_14 ;PMID: 27815844

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8
Newborn Screening for Vitamin B 6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Newborn Screening for Vitamin B 6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
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Newborn Screening for Vitamin B 6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

JIMD reports, 2017, Vol.32, p.87 [Peer Reviewed Journal]

ISSN: 2192-8304 ;EISSN: 2192-8312 ;DOI: 10.1007/8904_2016_556 ;PMID: 27325427

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9
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

JIMD Reports, Volume 39, 2018, Vol.39, p.83-87 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_48 ;PMID: 28755360

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10
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

JIMD Reports, Volume 39, 2018, Vol.39, p.25-30 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_44 ;PMID: 28699143

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11
First Successful Conception Induced by a Male Cystinosis Patient
First Successful Conception Induced by a Male Cystinosis Patient
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First Successful Conception Induced by a Male Cystinosis Patient

JIMD Reports, Volume 38, 2018, Vol.38, p.1-6 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 9783662566091 ;ISBN: 3662566095 ;EISSN: 2192-8312 ;EISBN: 9783662566107 ;EISBN: 3662566109 ;DOI: 10.1007/8904_2017_19 ;PMID: 28405942

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12
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

JIMD Reports, Volume 41, 2018, Vol.41, p.63-72 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018 ;ISSN: 2192-8304 ;ISBN: 9783662580806 ;ISBN: 3662580802 ;EISSN: 2192-8312 ;EISBN: 9783662580813 ;EISBN: 3662580810 ;DOI: 10.1007/8904_2018_102 ;PMID: 29654548

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13
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
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Mutations in GMPPB Presenting with Pseudometabolic Myopathy

JIMD Reports, Volume 38, 2018, Vol.38, p.23-31 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 9783662566091 ;ISBN: 3662566095 ;EISSN: 2192-8312 ;EISBN: 9783662566107 ;EISBN: 3662566109 ;DOI: 10.1007/8904_2017_25 ;PMID: 28456886

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14
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

JIMD Reports, Volume 40, 2018, Vol.40, p.97-103 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 9783662578797 ;ISBN: 3662578794 ;EISSN: 2192-8312 ;EISBN: 9783662578803 ;EISBN: 3662578808 ;DOI: 10.1007/8904_2017_69 ;PMID: 29143197

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15
Innate and Adaptive Immune Response in Fabry Disease
Innate and Adaptive Immune Response in Fabry Disease
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Innate and Adaptive Immune Response in Fabry Disease

JIMD Reports, Volume 22, 2015, Vol.22, p.1-10 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 3662474522 ;ISBN: 9783662474525 ;EISSN: 2192-8312 ;EISBN: 9783662474532 ;EISBN: 3662474530 ;DOI: 10.1007/8904_2014_371 ;PMID: 25690728

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16
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion

JIMD Reports, Volume 40, 2018, Vol.40, p.7-9 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 9783662578797 ;ISBN: 3662578794 ;EISSN: 2192-8312 ;EISBN: 9783662578803 ;EISBN: 3662578808 ;DOI: 10.1007/8904_2017_56 ;PMID: 28879639

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17
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

JIMD Reports, Volume 28, 2016, Vol.28, p.49-57 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 9783662528464 ;ISBN: 3662528460 ;EISSN: 2192-8312 ;EISBN: 3662528479 ;EISBN: 9783662528471 ;DOI: 10.1007/8904_2015_515 ;PMID: 26537577

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18
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
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Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

JIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 3662474522 ;ISBN: 9783662474525 ;EISSN: 2192-8312 ;EISBN: 9783662474532 ;EISBN: 3662474530 ;DOI: 10.1007/8904_2015_411 ;PMID: 25762493

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19
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?
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Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

JIMD Reports, Volume 39, 2018, Vol.39, p.55-62 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_46 ;PMID: 28726123

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20
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
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Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

JIMD Reports, Volume 39, 2018, Vol.39, p.19-23 [Peer Reviewed Journal]

SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_36 ;PMID: 28689308

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Results 1 - 20 of 363  for All Library Resources

Sorted by: Sorted by: RelevanceOr hit Enter to replace sort method
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