JIMD Reports Volume 41

... Morava Baumgartner Marc Patterson Shamima Johannes Zschocke Rahman Verena Peters Editors. JIMD. Reports. Focus Issue: Adults and Metabolism Volume 41 JIMD Reports Volume 41 Eva Morava Editor-in-Chief Matthias Baumgartner •. Front Cover.

JIMD Reports  Volume 41

JIMD Reports Volume 41

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 21

... Affected Pregnancy complication Symptoms before pregnancy First pregnancy Affected pregnancies per participant Total number of women reporting complications (n 1⁄4 41) pregnancies (n 1⁄4 102) Proteinuria Yes Yes 2/2 17/41 38/102 No ...

JIMD Reports  Volume 21

JIMD Reports Volume 21

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Case and Research Reports Volume 13

Table 1 Motor and sensory nerve conduction studies Normal Patient SNAP (mV) NCV (m/s) SNAP (mV) NCV (m/s) Sensory nerves Right sural >5 >41 NR NR Left sural >5 >41 NR NR Left median >14 >44 12 57 CMAP (mV) NCV (m/s) CMAP (mV) NCV (m/s) ...

JIMD Reports   Case and Research Reports  Volume 13

JIMD Reports Case and Research Reports Volume 13

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 19

JIMD Reports 1:43–47 Ogier de Baulny H, Schiff M et al (2012) Lysinuric protein intolerance (LPI): a multi organ disease by ... Endocrinol Metab Clin North Am 41:747–759 Ranke MB, Lindberg A, Price DA et al (2007) Age at growth hormone ...

JIMD Reports  Volume 19

JIMD Reports Volume 19

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 37

In the majority of cases, the onset of renal failure in the males occurred after the reported age range at which they ... in years 12–20 1 2.0 2 0.76 21–29 32 2.0 2 30–35 23 1.7 2 36–40 7 1.7 2 41–45 3 1.7 2 Age at birth of last child, ...

JIMD Reports  Volume 37

JIMD Reports Volume 37

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 42

(9.38–12.3 s) seconds, INR: 1.23 (0.8–1.2) and PTT: 41 (24.8–34.9 s) seconds). Bone marrow biopsy showed hemophagocytosis in addition to low NK cells by flow cytometry. Spleen enlargement was detected by abdominal ultrasound.

JIMD Reports  Volume 42

JIMD Reports Volume 42

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 35

Mol Genet Metab 100:37–41 Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y (2014) Ketone body metabolism and its ... Pediatr Res 56:60–64 DOI 10.1007/8904_2016_29 CASE REPORT LDLR Mutation S. Varma • A.D. JIMD Reports 65 References.

JIMD Reports  Volume 35

JIMD Reports Volume 35

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 38

He came to our attention at 5 months (weight 6.500 g, between 10 and 25th percentiles; length 67 cm, 50th percentile; head circumference 42 cm, 25th percentile) because of increased serum transaminases (AST: 100 U/L [normal: <41], ...

JIMD Reports  Volume 38

JIMD Reports Volume 38

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.

JIMD Reports Volume 36

... Carbohydrates (g) 218.7 (70.9) 168 (55) 187.5 (60.7) 141 (41) 21.0 (44.2) 27 (34) <0.01 Protein (g)b 56.8 (34.0) ... 3 Source of nutrient intake and spearman's partial” correlation 72 JIMD Reports Correlation Between Nutrient Intake ...

JIMD Reports  Volume 36

JIMD Reports Volume 36

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports Volume 15

Epilepsia 49(Suppl 8):37–41 Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA (2013) Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. Mov Disord 10:1439–1442 Lutas A, ...

JIMD Reports  Volume 15

JIMD Reports Volume 15

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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