Results
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481.
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482.
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483.
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Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms. [electronic resource] by
- Langan, Thomas J
- Jalal, Kabir
- Barczykowski, Amy L
- Carter, Randy L
- Stapleton, Molly
- Orii, Kenji
- Fukao, Toshiyuki
- Kobayashi, Hironori
- Yamaguchi, Seiji
- Tomatsu, Shunji
Publication details: JIMD reports Mar 2020
In:
JIMD reports vol. 52
Availability: No items available.
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484.
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Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study. [electronic resource] by
- Jain-Ghai, Shailly
- Joffe, Ari R
- Bond, Gwen Y
- Siriwardena, Komudi
- Chan, Alicia
- Yap, Jason Y K
- Hajihosseini, Morteza
- Dinu, Irina A
- Acton, Bryan V
- Robertson, Charlene M T
Publication details: JIMD reports Mar 2020
In:
JIMD reports vol. 52
Availability: No items available.
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485.
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486.
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487.
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488.
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489.
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490.
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cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. [electronic resource] by
- Palanca, Daniel
- Garcia-Cazorla, Angels
- Ortiz, Jessica
- Jou, Cristina
- Cusí, Victoria
- Suñol, Mariona
- Toll, Teresa
- Perez, Belén
- Ormazabal, Aida
- Fowler, Brian
- Artuch, Rafael
Producer: 20130225
In:
JIMD reports vol. 8
Availability: No items available.
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491.
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492.
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493.
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494.
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Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet. [electronic resource] by
- Rubin, S
- Piffer, A L Le
- Rougier, M B
- Delyfer, M N
- Korobelnik, J F
- Redonnet-Vernhet, I
- Marchal, C
- Goizet, C
- Mesli, S
- Gonzalez, C
- Gin, H
- Rigalleau, V
Producer: 20130515
In:
JIMD reports vol. 10
Availability: No items available.
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495.
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496.
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497.
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498.
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499.
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The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations. [electronic resource] by
- Pérez, B
- Briones, P
- Quelhas, D
- Artuch, R
- Vega, A I
- Quintana, E
- Gort, L
- Ecay, M J
- Matthijs, G
- Ugarte, M
- Pérez-Cerdá, C
Producer: 20130225
In:
JIMD reports vol. 1
Availability: No items available.
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500.
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