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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

Angelini, Corrado ; Tavian, Daniela ; Missaglia, Sara

JIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Vals, Mari-Anne ; Pajusalu, Sander ; Kals, Mart ; Mägi, Reedik ; Õunap, Katrin

JIMD Reports, Volume 39, 2018, Vol.39, p.13-17 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Lavery, Christine ; Hendriksz, Chris

JIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Pyhtila, Brook M. ; Shaw, Kelly A. ; Neumann, Samantha E. ; Fridovich-Keil, Judith L.

JIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Medford, Emma ; Hare, Dougal Julian ; Wittkowski, Anja

JIMD Reports, Volume 39, 2018, Vol.39, p.107-116 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; Li, Mei-Hsin

JIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Attri, Savita Verma ; Singhi, Pratibha ; Wiwattanadittakul, Natrujee ; Goswami, Jyotindra N. ; Sankhyan, Naveen ; Salomons, Gajja S. ; Roullett, Jean-Baptiste ; Hodgeman, Ryan ; Parviz, Mahsa ; Gibson, K. Michael ; Pearl, Phillip L.

JIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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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

Okun, Jürgen G ; Gan-Schreier, Hongying ; Ben-Omran, Tawfeq ; Schmidt, Kathrin V ; Fang-Hoffmann, Junmin ; Gramer, Gwendolyn ; Abdoh, Ghassan ; Shahbeck, Noora ; Al Rifai, Hilal ; Al Khal, Abdul Latif ; Haege, Gisela ; Chiang, Chuan-Chi ; Kasper, David C ; Wilcken, Bridget ; Burgard, Peter ; Hoffmann, Georg F

JIMD reports, 2017, Vol.32, p.87 [Periódico revisado por pares]

United States

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9
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

Riley, Lisa G. ; Rudinger-Thirion, Joëlle ; Schmitz-Abe, Klaus ; Thorburn, David R. ; Davis, Ryan L. ; Teo, Juliana ; Arbuckle, Susan ; Cooper, Sandra T. ; Campagna, Dean R. ; Frugier, Magali ; Markianos, Kyriacos ; Sue, Carolyn M. ; Fleming, Mark D. ; Christodoulou, John

JIMD Reports, Volume 28, 2016, Vol.28, p.49-57 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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10
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

Huffnagel, Irene C. ; Redeker, Egbert J. W. ; Reneman, Liesbeth ; Vaz, Frédéric M. ; Ferdinandusse, Sacha ; Poll-The, Bwee Tien

JIMD Reports, Volume 39, 2018, Vol.39, p.83-87 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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